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

4 papers

NM_007294.4

p.V162fs

c.484_485fs

Surrounding Variants

4 papers

NM_007294.4

p.V162V

c.486G>T

1 paper

NM_007294.4

p.V162V

c.486G>A

2 papers

NM_007294.4

p.S153_V162Fs

c.457_486delinsCFs

1 paper

NM_007294.4

p.V162G

c.485T>G

3 papers

NM_007294.4

p.V162A

c.485T>C

1 paper

NM_007294.4

p.V162E

c.485T>A

2 papers

NM_007294.4

p.V162delFs

c.484delC

2 papers

NM_007294.4

p.R163G

c.487A>G

1 paper

NM_007294.4

p.V162_R163insFs

c.486_487insG

1 paper

NM_007294.4

p.V162insFs

c.485_486dupTG

1 paper

NM_007294.4

p.V162delFs

c.486delC

14 papers

NM_007294.4

p.V162delFs

c.485_486delCA