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

3 papers

NM_007294.4

p.K654delFs

c.1960_1961delTT

Surrounding Variants

3 papers

NM_007294.4

p.K654_Y655insFs

c.1962_1963insT

63 papers

NM_007294.4

p.K654fs

c.1960_1961fs

89 papers

NM_007294.4

p.K654insFs

c.1961_1962insA

173 papers

NM_007294.4

p.K654delFs

c.1961delT

1 paper

NM_007294.4

p.K652del1

c.1954_1955delTTT

1 paper

NM_007294.4

p.K653_K654delFs

c.1958_1961del4

9 papers

NM_007294.4

p.K654insFs

c.1962dupG

2 papers

NM_007294.4

p.Y655D

c.1963T>G

1 paper

NM_007294.4

p.Y655H

c.1963T>C

33 papers

NM_007294.4

p.Y655fs

c.1963_1964fs

1 paper

NM_007294.4

p.K654T

c.1961A>C

2 papers

NM_007294.4

p.K654insFs

c.1961_1962insT