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

2 papers

NM_007294.4

p.V409_A410insFs

c.1227_1230dup4

Surrounding Variants

1 paper

NM_007294.4

p.D411fs

c.1231_1232fs

4 papers

NM_007294.4

p.D411H

c.1231G>C

12 papers

NM_007294.4

p.D411N

c.1231G>A

1 paper

NM_007294.4

p.A410_D411insFs

c.1230_1231ins5

7 papers

NM_007294.4

p.D411V

c.1232A>T

2 papers

NM_007294.4

p.D411delFs

c.1231delC

1 paper

NM_007294.4

p.V409_A410del2

c.1225_1229del6

1 paper

NM_007294.4

p.D411_V412insFs

c.1233_1234insA

20 papers

NM_007294.4

p.D411E

c.1233T>G

18 papers

NM_007294.4

p.D411E

c.1233T>A

1 paper

NM_007294.4

p.A410fs

c.1228_1229fs

3 papers

NM_007294.4

p.V412L

c.1234G>T