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.M669L

c.2005A>C

Surrounding Variants

2 papers

NM_007294.4

p.M669fs

c.2005_2006fs

3 papers

NM_007294.4

p.M669L

c.2005A>T

1 paper

NM_007294.4

p.M669V

c.2005A>G

2 papers

NM_007294.4

p.M669_E670insC

c.2005_2009ins3

1 paper

NM_007294.4

p.M669_E670ins4

c.2005_2009ins12

1 paper

NM_007294.4

p.Q667_L668del2

c.1999_2003del6

2 papers

NM_007294.4

p.M669insFs

c.2005dupA

15 papers

NM_007294.4

p.M669T

c.2006T>C

1 paper

NM_007294.4

p.S663_L668del6

c.1987_2003del18

1 paper

NM_007294.4

p.L666_Q667del2

c.1996_2000del6

1 paper

NM_007294.4

p.L668R

c.2003T>G

4 papers

NM_007294.4

p.E670*

c.2008G>T