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

2 papers

NM_007294.4

p.H1545Y

c.4633C>T

Surrounding Variants

1 paper

NM_007294.4

p.H1545N

c.4633C>A

1 paper

NM_007294.4

p.H1545fs

c.4633_4634fs

1 paper

NM_007294.4

p.E1541_P1544delFs

c.4623_4632del10

1 paper

NM_007294.4

p.H1545L

c.4634A>T

1 paper

NM_007294.4

p.P1544insFs

c.4631dupC

1 paper

NM_007294.4

p.P1544insFs

c.4630_4631dupCC

2 papers

NM_007294.4

p.H1545delFs

c.4633delG

2 papers

NM_007294.4

p.P1544delFs

c.4631delG

10 papers

NM_007294.4

p.P1544L

c.4631C>T

3 papers

NM_007294.4

p.H1545H

c.4635C>T

5 papers

NM_007294.4

p.H1545Q

c.4635C>G

5 papers

NM_007294.4

p.H1545Q

c.4635C>A