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.G890E

c.2669G>A

Surrounding Variants

20 papers

NM_007294.4

p.G890V

c.2669G>T

1 paper

NM_007294.4

p.G890W

c.2668G>T

2 papers

NM_007294.4

p.S889_G890insFs

c.2667_2668insT

1 paper

NM_007294.4

p.G890fs

c.2668_2669fs

9 papers

NM_007294.4

p.G890R

c.2668G>C

12 papers

NM_007294.4

p.G890R

c.2668G>A

1 paper

NM_007294.4

p.G890G

c.2670G>A

2 papers

NM_007294.4

p.S889delFs

c.2667delA

1 paper

NM_007294.4

p.S889delFs

c.2665_2666delGA

1 paper

NM_007294.4

p.S889del1

c.2665_2666delAGA

1 paper

NM_007294.4

p.S889insFs

c.2666dupC

1 paper

NM_007294.4

p.S891A

c.2671T>G