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

4 papers

NM_007294.4

p.G263V

c.788G>T

NM_007298.4

p.G263Splc

c.787+1G>T

NM_007297.4

p.G216V

c.647G>T

Surrounding Variants

2 papers

NM_007294.4

p.G263A

c.788G>C

4 papers

NM_007294.4

p.G263D

c.788G>A

7 papers

NM_007294.4

p.G263insFs

c.788dupG

1 paper

NM_007294.4

p.G263G

c.789T>C

2 papers

NM_007294.4

p.G263C

c.787G>T

1 paper

NM_007294.4

p.G263R

c.787G>C

1 paper

NM_007294.4

p.G263S

c.787G>A

10 papers

NM_007294.4

p.S264fs

c.790_791fs

2 papers

NM_007294.4

p.Q262H

c.786G>T

3 papers

NM_007294.4

p.Q262H

c.786G>C

3 papers

NM_007294.4

p.Q262Q

c.786G>A

2 papers

NM_007294.4

p.S264C

c.790A>T