Varaico: Literature-Extracted Genetic Variants

BRCA1

8,702 papers

RefSeq Summary

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of ...

Pfam Domains

zf-RING_UBOXaa 24–52UCSCRING-type zinc-finger

zf-C3HC4aa 24–64UCSCZinc finger, C3HC4 type (RING finger)

BRCT_assocaa 345–508UCSCSerine-rich domain associated with BRCT

BRCTaa 1642–1723UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 1756–1842UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

BRCA1 DNA repair associated

HGNC Alias Symbols

RNF53; BRCC1; PPP1R53; FANCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

89 papers

NM_007294.4

p.R1076_G1077delFs

c.3228_3229delCT

Surrounding Variants

1 paper

NM_007294.4

p.G1077A

c.3230G>C

3 papers

NM_007294.4

p.G1077E

c.3230G>A

1 paper

NM_007294.4

p.G1077W

c.3229G>T

13 papers

NM_007294.4

p.G1077fs

c.3229_3230fs

1 paper

NM_007294.4

p.G1077R

c.3229G>C

1 paper

NM_007294.4

p.G1077R

c.3229G>A

30 papers

NM_007294.4

p.G1077fs

c.3229_3230fs

2 papers

NM_007294.4

p.P1078A

c.3232C>G

2 papers

NM_007294.4

p.G1077delFs

c.3231delC

2 papers

NM_007294.4

p.R1076_G1077del2

c.3226_3230del6

1 paper

NM_007294.4

p.I1068_G1077del10

c.3202_3230del30

5 papers

NM_007294.4

p.R1076S

c.3228A>T