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

99 papers

NM_007294.4

p.E1694*

c.5080G>T

Surrounding Variants

5 papers

NM_007294.4

p.E1694Q

c.5080G>C

15 papers

NM_007294.4

p.E1694K

c.5080G>A

3 papers

NM_007294.4

p.A1693_E1694delins

c.5077_5080delinsTTCATTCTGC

1 paper

NM_007294.4

p.E1694fs

c.5080_5081fs

1 paper

NM_007294.4

p.A1693A

c.5079T>G

2 papers

NM_007294.4

p.A1693A

c.5079T>C

2 papers

NM_007294.4

p.A1693A

c.5079T>A

1 paper

NM_007294.4

p.D1692_A1693delFs

c.5075_5078del4

5 papers

NM_007294.4

p.E1694V

c.5081A>T

9 papers

NM_007294.4

p.E1694G

c.5081A>G

5 papers

NM_007294.4

p.E1694A

c.5081A>C

1 paper

NM_007294.4

p.E1694delFs

c.5080delC