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

1 paper

NM_007294.4

p.R664S

c.1992A>T

Surrounding Variants

1 paper

NM_007294.4

p.R664S

c.1992A>C

1 paper

NM_007294.4

p.R664I

c.1991G>T

1 paper

NM_007294.4

p.R664T

c.1991G>C

4 papers

NM_007294.4

p.R664K

c.1991G>A

1 paper

NM_007294.4

p.N665fs

c.1993_1994fs

2 papers

NM_007294.4

p.N665D

c.1993A>G

1 paper

NM_007294.4

p.H662_R664del0

c.1984_1992del9

4 papers

NM_007294.4

p.N665S

c.1994A>G

3 papers

NM_007294.4

p.R664G

c.1990A>G

1 paper

NM_007294.4

p.S663delFs

c.1989delG

1 paper

NM_007294.4

p.R664del1

c.1990_1991delTCT

1 paper

NM_007294.4

p.S663S

c.1989C>T