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.H239D

c.715C>G

Surrounding Variants

3 papers

NM_007294.4

p.H239Y

c.715C>T

2 papers

NM_007294.4

p.H239N

c.715C>A

1 paper

NM_007297.4

p.D185_H191delFs

c.555_573del19

2 papers

NM_007294.4

p.E230_H238del9

c.688_713del27

1 paper

NM_007294.4

p.H238insFs

c.713dupA

2 papers

NM_007294.4

p.H238Q

c.714T>G

2 papers

NM_007294.4

p.H238Q

c.714T>A

1 paper

NM_007294.4

p.H238delFs

c.713delT

3 papers

NM_007294.4

p.H239L

c.716A>T

19 papers

NM_007294.4

p.H239R

c.716A>G

2 papers

NM_007294.4

p.H239P

c.716A>C

1 paper

NM_007294.4

p.H239insFs

c.716_717insT