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.I171_P173del3

c.511_518del9

Surrounding Variants

14 papers

NM_007294.4

p.Q174*

c.520C>T

1 paper

NM_007294.4

p.Q174E

c.520C>G

6 papers

NM_007294.4

p.P173delFs

c.519delA

3 papers

NM_007294.4

p.Q174fs

c.520_521fs

1 paper

NM_007294.4

p.P173delFs

c.518delG

8 papers

NM_007294.4

p.Q174L

c.521A>T

2 papers

NM_007294.4

p.Q174R

c.521A>G

7 papers

NM_007294.4

p.Q174delFs

c.520delG

1 paper

NM_007294.4

p.P173R

c.518C>G

1 paper

NM_007294.4

p.P173H

c.518C>A

1 paper

NM_007294.4

p.Q172del1

c.514_515delTTG

2 papers

NM_007294.4

p.Q174H

c.522A>T