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.E272_G275insFs

c.816_825dup10

Surrounding Variants

1 paper

NM_007294.4

p.T276_N277insA

c.826_830ins3

2 papers

NM_007294.4

p.G275delFs

c.825delG

23 papers

NM_007294.4

p.T276fs

c.826_827fs

6 papers

NM_007294.4

p.G275G

c.825C>T

4 papers

NM_007294.4

p.T276I

c.827C>T

21 papers

NM_007294.4

p.T276R

c.827C>G

1 paper

NM_007294.4

p.G275insFs

c.824dupG

44 papers

NM_007294.4

p.E272_G275insFs

c.815_824dup10

2 papers

NM_007294.4

p.G275fs

c.823_824fs

3 papers

NM_007294.4

p.T276K

c.827C>A

2 papers

NM_007294.4

p.E272_G275delFs

c.815_824del10

1 paper

NM_007294.4

p.C274_T276delFs

c.822_826del5