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.R1649delins

c.4945_4947delinsTTT

Surrounding Variants

10 papers

NM_007294.4

p.R1649S

c.4947A>T

10 papers

NM_007294.4

p.R1649S

c.4947A>C

4 papers

NM_007294.4

p.R1649fs

c.4945_4946fs

6 papers

NM_007294.4

p.R1649Fs

c.4945_4947delinsTTTTFs

9 papers

NM_007294.4

p.R1649I

c.4946G>T

11 papers

NM_007294.4

p.R1649T

c.4946G>C

11 papers

NM_007294.4

p.R1649K

c.4946G>A

1 paper

NM_007294.4

p.M1650fs

c.4948_4949fs

9 papers

NM_007294.4

p.R1649delFs

c.4945delT

2 papers

NM_007294.4

p.K1648_R1649delFs

c.4944_4945delTT

9 papers

NM_007294.4

p.M1650L

c.4948A>T

13 papers

NM_007294.4

p.M1650V

c.4948A>G