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

9 papers

NM_007294.4

p.K38R

c.113A>G

Surrounding Variants

6 papers

NM_007294.4

p.K38M

c.113A>T

7 papers

NM_007294.4

p.K38T

c.113A>C

16 papers

NM_007294.4

p.K38N

c.114G>T

2 papers

NM_007294.4

p.K38fs

c.112_113fs

12 papers

NM_007294.4

p.K38N

c.114G>C

27 papers

NM_007294.4

p.K38K

c.114G>A

1 paper

NM_007294.4

p.K38delFs

c.113delT

7 papers

NM_007294.4

p.K38delFs

c.112_113delTT

3 papers

NM_007294.4

p.K38fs

c.112_113fs

2 papers

NM_007294.4

p.T37_K38delFs

c.110_113del4

3 papers

NM_007294.4

p.K38*

c.112A>T

10 papers

NM_007294.4

p.K38E

c.112A>G