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

54 papers

NM_007294.4

p.M1775K

c.5324T>A

Surrounding Variants

272 papers

NM_007294.4

p.M1775R

c.5324T>G

NM_007300.4

p.M1796R

c.5387T>G

6 papers

NM_007294.4

p.M1775T

c.5324T>C

5 papers

NM_007294.4

p.M1775I

c.5325G>T

1 paper

NM_007294.4

p.M1775fs

c.5323_5324fs

5 papers

NM_007294.4

p.M1775I

c.5325G>C

5 papers

NM_007294.4

p.M1775I

c.5325G>A

3 papers

NM_007294.4

p.M1775delFs

c.5323_5324delAT

2 papers

NM_007294.4

p.M1775fs

c.5323_5324fs

3 papers

NM_007294.4

p.M1775L

c.5323A>T

6 papers

NM_007294.4

p.M1775V

c.5323A>G

3 papers

NM_007294.4

p.M1775L

c.5323A>C

1 paper

NM_007300.4

p.N1795_M1796insFs

c.5385_5386insC