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.P173H

c.518C>A

Surrounding Variants

1 paper

NM_007294.4

p.P173R

c.518C>G

1 paper

NM_007294.4

p.Q172del1

c.514_515delTTG

1 paper

NM_007294.4

p.P173delFs

c.518delG

8 papers

NM_007294.4

p.P173S

c.517C>T

1 paper

NM_007294.4

p.P173A

c.517C>G

1 paper

NM_007294.4

p.P173_Q174ins16

c.517_521ins48

3 papers

NM_007294.4

p.P173insFs

c.517_518insA

1 paper

NM_007294.4

p.P173T

c.517C>A

1 paper

NM_007294.4

p.Q172delFs

c.516delT

6 papers

NM_007294.4

p.L159_Q172delFs

c.476_516del41

14 papers

NM_007294.4

p.Q174*

c.520C>T

1 paper

NM_007294.4

p.Q174E

c.520C>G