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

33 papers

NM_007294.4

p.C39S

c.115T>A

Surrounding Variants

29 papers

NM_007294.4

p.C39G

c.115T>G

66 papers

NM_007294.4

p.C39R

c.115T>C

1 paper

NM_007294.4

p.K38delFs

c.114delC

2 papers

NM_007294.4

p.C39fs

c.115_116fs

18 papers

NM_007294.4

p.C39F

c.116G>T

16 papers

NM_007294.4

p.K38N

c.114G>T

2 papers

NM_007294.4

p.K38fs

c.112_113fs

30 papers

NM_007294.4

p.C39S

c.116G>C

12 papers

NM_007294.4

p.K38N

c.114G>C

87 papers

NM_007294.4

p.C39Y

c.116G>A

27 papers

NM_007294.4

p.K38K

c.114G>A

1 paper

NM_007294.4

p.C39delFs

c.115delA