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

59 papers

NM_007294.4

p.T826K

c.2477C>A

Surrounding Variants

1 paper

NM_007294.4

p.T826I

c.2477C>T

1 paper

NM_007294.4

p.T826R

c.2477C>G

4 papers

NM_007294.4

p.T826delFs

c.2476delT

1 paper

NM_007294.4

p.N824_T826del0

c.2471_2476del6

2 papers

NM_007294.4

p.T826P

c.2476A>C

3 papers

NM_007294.4

p.T826_E827insFs

c.2478_2479insG

2 papers

NM_007294.4

p.T826fs

c.2476_2477fs

75 papers

NM_007294.4

p.D825delFs

c.2475delG

1 paper

NM_007294.4

p.T826delFs

c.2477delG

7 papers

NM_007294.4

p.T826fs

c.2476_2477fs

1 paper

NM_007294.4

p.E827*

c.2479G>T

1 paper

NM_007294.4

p.E827Q

c.2479G>C