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

2 papers

NM_007294.4

p.A17fs

c.49_50fs

Surrounding Variants

1 paper

NM_007294.4

p.A17A

c.51T>G

3 papers

NM_007294.4

p.A17A

c.51T>C

1 paper

NM_007294.4

p.A17A

c.51T>A

1 paper

NM_007294.4

p.A17delFs

c.49_50delGC

1 paper

NM_007294.4

p.M18fs

c.52_53fs

11 papers

NM_007294.4

p.A17V

c.50C>T

6 papers

NM_007294.4

p.A17G

c.50C>G

1 paper

NM_007294.4

p.A17ins4

c.49_50ins12

5 papers

NM_007294.4

p.A17D

c.50C>A

1 paper

NM_007294.4

p.A17delins

c.49_50delinsTG

1 paper

NM_007294.4

p.A17delFs

c.49delC

2 papers

NM_007294.4

p.N13_I15del3

c.37_44del9