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

32 papers

NM_007294.4

p.D1739G

c.5216A>G

Surrounding Variants

35 papers

NM_007294.4

p.D1739V

c.5216A>T

8 papers

NM_007294.4

p.D1739A

c.5216A>C

1 paper

NM_007294.4

p.D1739ins1

c.5216_5217insCCT

7 papers

NM_007294.4

p.G1738_D1739del1

c.5213_5215delCTC

4 papers

NM_007294.4

p.D1739insFs

c.5216dupA

18 papers

NM_007294.4

p.D1739E

c.5217T>G

18 papers

NM_007294.4

p.D1739E

c.5217T>A

1 paper

NM_007294.4

p.D1739delFs

c.5216delT

1 paper

NM_007294.4

p.D1739delFs

c.5215_5216delTC

1 paper

NM_007294.4

p.D1739fs

c.5215_5216fs

7 papers

NM_007294.4

p.G1738_D1739delFs

c.5213_5216del4

18 papers

NM_007294.4

p.D1739Y

c.5215G>T