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

53 papers

NM_007294.4

p.V772A

c.2315T>C

Surrounding Variants

6 papers

NM_007294.4

p.V772delFs

c.2314delC

1 paper

NM_007294.4

p.V772L

c.2314G>T

1 paper

NM_007294.4

p.V772insFs

c.2314_2315ins17

1 paper

NM_007294.4

p.V772L

c.2314G>C

1 paper

NM_007294.4

p.L771_V772delins

c.2311_2314delinsCTGT

1 paper

NM_007294.4

p.I769_L771delFs

c.2307_2313del7

2 papers

NM_007294.4

p.S767_L771del5

c.2299_2312del15

1 paper

NM_007294.4

p.V772fs

c.2314_2315fs

5 papers

NM_007294.4

p.V772fs

c.2314_2315fs

3 papers

NM_007294.4

p.V772delFs

c.2314_2315delAC

1 paper

NM_007294.4

p.L771_V772delFs

c.2312_2315del4

4 papers

NM_007294.4

p.P773fs

c.2317_2318fs