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

4 papers

NM_007294.4

p.S426fs

c.1276_1277fs

Surrounding Variants

1 paper

NM_007294.4

p.S426S

c.1278A>C

1 paper

NM_007294.4

p.S426_E427insFs

c.1278_1279insT

2 papers

NM_007294.4

p.S426delFs

c.1277delG

1 paper

NM_007294.4

p.Y422_S426del0

c.1266_1277del12

2 papers

NM_007294.4

p.A410_S426del0

c.1229_1276del48

9 papers

NM_007294.4

p.E427*

c.1279G>T

1 paper

NM_007294.4

p.E427_K428insA

c.1279_1283ins3

2 papers

NM_007294.4

p.E427Q

c.1279G>C

2 papers

NM_007294.4

p.E427K

c.1279G>A

12 papers

NM_007294.4

p.S426delFs

c.1278delT

4 papers

NM_007294.4

p.S426*

c.1277C>G

2 papers

NM_007294.4

p.S425_S426insFs

c.1275_1276insT