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

6 papers

NM_007294.4

p.Y1666N

c.4996T>A

Surrounding Variants

7 papers

NM_007299.4

p.Y562D

c.1684T>G

NM_007294.4

p.Y1666D

c.4996T>G

9 papers

NM_007294.4

p.Y1666H

c.4996T>C

2 papers

NM_007294.4

p.Y1666fs

c.4996_4997fs

1 paper

NM_007294.4

p.V1665fs

c.4993_4994fs

1 paper

NM_007294.4

p.V1665V

c.4995G>A

1 paper

NM_007294.4

p.V1665delins

c.4993_4995delinsCCC

6 papers

NM_007294.4

p.Y1666F

c.4997A>T

16 papers

NM_007294.4

p.Y1666C

c.4997A>G

6 papers

NM_007294.4

p.Y1666S

c.4997A>C

2 papers

NM_007294.4

p.Y1666insFs

c.4997_4998insTA

1 paper

NM_007294.4

p.Y1666delins

c.4996_4997delinsCC

12 papers

NM_007294.4

p.V1665G

c.4994T>G