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

102 papers

NM_007294.4

p.N550H

c.1648A>C

Surrounding Variants

2 papers

NM_007294.4

p.N550fs

c.1648_1649fs

1 paper

NM_007294.4

p.N550Y

c.1648A>T

1 paper

NM_007294.4

p.N550D

c.1648A>G

1 paper

NM_007294.4

p.T549insFs

c.1647dupT

1 paper

NM_007294.4

p.N550insFs

c.1648_1649insG

1 paper

NM_007294.4

p.I548_T549delFs

c.1644_1647del4

1 paper

NM_007294.4

p.M546_T549delFs

c.1637_1647del11

1 paper

NM_007294.4

p.N550S

c.1649A>G

2 papers

NM_007294.4

p.N550_S551insFs

c.1650_1651insC

1 paper

NM_007294.4

p.N550N

c.1650T>C

6 papers

NM_007294.4

p.N550delFs

c.1649delT

1 paper

NM_007294.4

p.T549_N550delFs

c.1646_1649del4