Sequence Browser (P51587-1)

UniProt (Ref Seq)
Displayed Structure
Experimental Tertiary/Complex (PDB:XRay/EM)
Experimental Tertiary/Complex (PDB:NMR)
Modelled Tertiary (Phyre)
If the whole structure is coloured grey in '3D Structure Viewer' panel, please click the icon - on the top left corner of the viewer.
(If nothing changes then 'Sequence ↔ Structure' mapping may be unavailable).
1
3418
Isoform
Remark
Ref
P51587-1  
Click on Isoform of interest to be redirected to the corresponding page
Type
Variation
Position
sequence variant
W → C
31
sequence variant
F → L
32
sequence variant
K → R
53
sequence variant
T → I
64
sequence variant
F → L
81
sequence variant
R → H
118
sequence variant
P → R
201
sequence variant
P → S
222
sequence variant
N → H
289
sequence variant
K → Q
322
sequence variant
K → E
327
sequence variant
N → H
372
sequence variant
T → I
431
sequence variant
E → G
462
sequence variant
K → R
513
sequence variant
T → P
582
sequence variant
S → F
599
sequence variant
L → R
613
sequence variant
D → Y
707
sequence variant
I → M
729
sequence variant
N → I
886
sequence variant
D → N
935
sequence variant
I → L
982
sequence variant
N → D
991
sequence variant
S → R
1106
sequence variant
S → L
1172
sequence variant
N → S
1279
sequence variant
C → Y
1290
sequence variant
T → M
1414
sequence variant
K → T
1445
sequence variant
L → F
1522
sequence variant
G → R
1529
sequence variant
H → N
1561
sequence variant
E → D
1593
sequence variant
T → I
1679
sequence variant
N → Y
1730
sequence variant
V → A
1804
sequence variant
N → K
1880
sequence variant
E → K
1901
sequence variant
T → M
1915
sequence variant
S → R
1979
sequence variant
T → A
2031
sequence variant
G → V
2044
sequence variant
H → N
2074
sequence variant
Y → C
2094
sequence variant
G → R
25
sequence variant
W → R
31
sequence variant
Y → C
42
sequence variant
N → S
60
sequence variant
A → P
75
sequence variant
N → H
108
sequence variant
M → T
192
sequence variant
V → A
211
sequence variant
T → A
225
sequence variant
C → S
315
sequence variant
S → R
326
sequence variant
V → L
355
sequence variant
G → R
405
sequence variant
R → H
448
sequence variant
I → T
505
sequence variant
C → W
554
sequence variant
T → A
598
sequence variant
P → L
606
sequence variant
T → I
630
sequence variant
D → A
728
sequence variant
M → V
784
sequence variant
L → S
929
sequence variant
S → F
976
sequence variant
N → I
987
sequence variant
E → K
1036
sequence variant
N → S
1147
sequence variant
S → N
1179
sequence variant
Missing
1286
sequence variant
Missing
1302
sequence variant
D → Y
1420
sequence variant
D → N
1513
sequence variant
F → V
1524
sequence variant
V → M
1542
sequence variant
C → Y
1580
sequence variant
V → A
1643
sequence variant
K → N
1690
sequence variant
G → D
1771
sequence variant
N → S
1805
sequence variant
T → M
1887
sequence variant
D → N
1902
sequence variant
I → V
1929
sequence variant
V → I
1988
sequence variant
R → C
2034
sequence variant
S → C
2072
sequence variant
E → D
2089
sequence variant
P → L
2096
sequence variant
H → R
2116
sequence variant
R → C
2108
sequence variant
V → L
2118
sequence variant
N → H
2135
sequence variant
K → R
2162
sequence variant
D → E
2238
sequence variant
E → G
2275
sequence variant
R → H
2336
sequence variant
G → R
2353
sequence variant
Q → H
2421
sequence variant
N → D
2447
sequence variant
A → V
2466
sequence variant
R → K
2488
sequence variant
R → C
2502
sequence variant
L → P
2510
sequence variant
W → C
2626
sequence variant
L → P
2653
sequence variant
E → V
2663
sequence variant
N → S
2706
sequence variant
T → R
2722
sequence variant
D → H
2723
sequence variant
K → N
2729
sequence variant
R → H
2787
sequence variant
G → R
2793
sequence variant
R → C
2842
sequence variant
I → F
2944
sequence variant
A → T
2951
sequence variant
T → I
3013
sequence variant
P → S
3063
sequence variant
D → E
3095
sequence variant
L → R
3101
sequence variant
M → T
3118
sequence variant
K → E
3196
sequence variant
K → R
3257
sequence variant
P → S
3300
sequence variant
T → I
3374
mutagenesis site
W → A
2725
mutagenesis site
T → A
3387
sequence conflict
GY → RI
1761 - 1762
sequence conflict
S → P
2536
sequence variant
K → N
2128
sequence variant
V → F
2138
sequence variant
Y → C
2222
sequence variant
G → V
2274
sequence variant
F → L
2293
sequence variant
R → Q
2336
sequence variant
H → N
2415
sequence variant
H → R
2440
sequence variant
Q → E
2456
sequence variant
L → V
2480
sequence variant
I → T
2490
sequence variant
R → H
2502
sequence variant
T → I
2515
sequence variant
I → F
2627
sequence variant
R → K
2659
sequence variant
L → P
2686
sequence variant
D → G
2723
sequence variant
V → I
2728
sequence variant
G → D
2748
sequence variant
L → P
2792
sequence variant
S → P
2835
sequence variant
E → A
2856
sequence variant
K → N
2950
sequence variant
V → M
2969
sequence variant
R → W
3052
sequence variant
G → E
3076
sequence variant
Y → H
3098
sequence variant
I → M
3103
sequence variant
N → I
3124
sequence variant
V → I
3244
sequence variant
R → S
3276
sequence variant
T → R
3357
sequence variant
I → V
3412
mutagenesis site
S → E
3291
sequence conflict
S → N
758
sequence conflict
K → N
1767
sequence conflict
L → LVS
3216

To analyse the structural impact of your missense variant:

  • Select the corresponding experimental/modelled structure from the "Available Structures" Panel.
  • Right-click on the target structure and download it.
  • Go to our web server Missense3D to analyse structural impact.

  • Go to Missense3D
Protein:
Other Names:
Fanconi anemia group D1 protein
Primary Accession:
Other Accessions:
O00183, O15008, Q13879, Q5TBJ7
Gene :
BRCA2*, synonyms (FACD, FANCD1)
Organism :
Human
Entry Name :
Length :
3,418
Mass (Da) :
384,202
Last modified :
11-Jan-2015
Version :
v3
Isoforms :
1 
Variants :
168 
Interactions :
12 
Structures :
Experimental 2 | Phyre prediction 0

Involved in double-strand break repair and/or homologous recombination. Binds RAD51 and potentiates recombinational DNA repair by promoting assembly of RAD51 onto single-stranded DNA (ssDNA). Acts by targeting RAD51 to ssDNA over double-stranded DNA, enabling RAD51 to displace replication protein-A (RPA) from ssDNA and stabilizing RAD51-ssDNA filaments by blocking ATP hydrolysis. Part of a PALB2-scaffolded HR complex containing RAD51C and which is thought to play a role in DNA repair by HR. May participate in S phase checkpoint activation. Binds selectively to ssDNA, and to ssDNA in tailed duplexes and replication fork structures. May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with PALB2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity. In concert with NPM1, regulates centrosome duplication. Interacts with the TREX-2 complex (transcription and export complex 2) subunits PCID2 and SEM1, and is required to prevent R-loop-associated DNA damage and thus transcription-associated genomic instability. Silencing of BRCA2 promotes R-loop accumulation at actively transcribed genes in replicating and non-replicating cells, suggesting that BRCA2 mediates the control of R-loop associated genomic instability, independently of its known role in homologous recombination (PubMed:24896180).

With
Entry
IntAct
Exp
DMC1
Q14565
EBI-79792, EBI-930865
12
FANCD2
Q9BXW9-2
EBI-79792, EBI-596878
3
PALB2
Q86YC2
EBI-79792, EBI-1222653
22
POLH
Q9Y253
EBI-79792, EBI-2827270
6
RAD51
Q06609-1
EBI-79792, EBI-15557721
12
TP53
P04637
EBI-79792, EBI-366083
7
Itself
EBI-79792, EBI-79792
3
FANCD2
Q9BXW9
EBI-79792, EBI-359343
16
HMG20B
Q9P0W2
EBI-79792, EBI-713401
8
PDS5B
Q9NTI5
EBI-79792, EBI-1175604
26
RAD51
Q06609
EBI-79792, EBI-297202
45
SEM1
P60896
EBI-79792, EBI-79819
10