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

44 papers

NM_007294.4

p.Q172delFs

c.514delG

Surrounding Variants

2 papers

NM_007294.4

p.Q172R

c.515A>G

1 paper

NM_007294.4

p.Q172P

c.515A>C

1 paper

NM_007294.4

p.Q172insFs

c.515_516insT

1 paper

NM_007294.4

p.Q172insFs

c.515_516insC

21 papers

NM_007294.4

p.Q172*

c.514C>T

3 papers

NM_007294.4

p.Q172E

c.514C>G

2 papers

NM_007294.4

p.Q172K

c.514C>A

4 papers

NM_007294.4

p.Q172H

c.516A>T

2 papers

NM_007294.4

p.Q172Q

c.516A>G

4 papers

NM_007294.4

p.Q172H

c.516A>C

15 papers

NM_007294.4

p.Q172fs

c.514_515fs

17 papers

NM_007294.4

p.Q172fs

c.514_515fs