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

46 papers

NM_007294.4

p.S454delFs

c.1360_1361delCT

Surrounding Variants

2 papers

NM_007294.4

p.V452_E453insFs

c.1356_1357insAG

6 papers

NM_007294.4

p.S454fs

c.1360_1361fs

1 paper

NM_007294.4

p.S454_N455insFs

c.1362_1363insA

1 paper

NM_007294.4

p.S454R

c.1362T>G

1 paper

NM_007294.4

p.S454R

c.1362T>A

5 papers

NM_007294.4

p.S454delFs

c.1361delC

12 papers

NM_007294.4

p.S454N

c.1361G>A

3 papers

NM_007294.4

p.S454delFs

c.1360delT

2 papers

NM_007294.4

p.N455Y

c.1363A>T

1 paper

NM_007294.4

p.N455D

c.1363A>G

1 paper

NM_007294.4

p.N455H

c.1363A>C

1 paper

NM_007294.4

p.N455insFs

c.1363_1364insGA