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

42 papers

NM_007294.4

p.V802delFs

c.2405_2406delCA

Surrounding Variants

1 paper

NM_007294.4

p.S803G

c.2407A>G

1 paper

NM_007294.4

p.S803R

c.2407A>C

1 paper

NM_007294.4

p.V802insFs

c.2405dupT

7 papers

NM_007294.4

p.V802fs

c.2404_2405fs

1 paper

NM_007294.4

p.S803T

c.2408G>C

2 papers

NM_007294.4

p.S803N

c.2408G>A

1 paper

NM_007294.4

p.S803fs

c.2407_2408fs

4 papers

NM_007294.4

p.S803R

c.2409T>G

1 paper

NM_007294.4

p.V802G

c.2405T>G

1 paper

NM_007294.4

p.S803R

c.2409T>A

3 papers

NM_007294.4

p.S803delFs

c.2407_2408delCT

1 paper

NM_007294.4

p.V802L

c.2404G>T