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

1 paper

NM_007294.4

p.Q667insFs

c.2001dupA

Surrounding Variants

43 papers

NM_007294.4

p.L668F

c.2002C>T

2 papers

NM_007294.4

p.L668_M669insA

c.2002_2006ins3

1 paper

NM_007294.4

p.L668fs

c.2002_2003fs

1 paper

NM_007294.4

p.L668R

c.2003T>G

1 paper

NM_007294.4

p.L666_Q667del2

c.1996_2000del6

2 papers

NM_007294.4

p.M669fs

c.2005_2006fs

12 papers

NM_007294.4

p.Q667*

c.1999C>T

1 paper

NM_007294.4

p.Q667E

c.1999C>G

1 paper

NM_007294.4

p.L666insFs

c.1998dupA

1 paper

NM_007294.4

p.L666insFs

c.1997_1998ins4

3 papers

NM_007294.4

p.M669L

c.2005A>T

1 paper

NM_007294.4

p.M669V

c.2005A>G