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.P514T

c.1540C>A

Surrounding Variants

1 paper

NM_007294.4

p.H513fs

c.1537_1538fs

1 paper

NM_007294.4

p.P514L

c.1541C>T

4 papers

NM_007294.4

p.P514R

c.1541C>G

1 paper

NM_007294.4

p.P514insFs

c.1541_1542insG

1 paper

NM_007294.4

p.P514H

c.1541C>A

4 papers

NM_007294.4

p.H513_P514delFs

c.1538_1541del4

2 papers

NM_007294.4

p.H513L

c.1538A>T

5 papers

NM_007294.4

p.H513R

c.1538A>G

2 papers

NM_007294.4

p.H513P

c.1538A>C

1 paper

NM_007294.4

p.S510_H513delFs

c.1528_1537del10

1 paper

NM_007294.4

p.H513fs

c.1537_1538fs

8 papers

NM_007294.4

p.E515*

c.1543G>T