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.R728*

c.2182A>T

Surrounding Variants

2 papers

NM_007294.4

p.R728G

c.2182A>G

1 paper

NM_007294.4

p.R728_E729insC

c.2182_2186ins3

2 papers

NM_007294.4

p.R728I

c.2183G>T

1 paper

NM_007294.4

p.P727insFs

c.2181dupA

2 papers

NM_007294.4

p.R728T

c.2183G>C

12 papers

NM_007294.4

p.R728K

c.2183G>A

1 paper

NM_007294.4

p.N723_P727delFs

c.2167_2180del14

1 paper

NM_007294.4

p.P727fs

c.2179_2180fs

17 papers

NM_007294.4

p.P727L

c.2180C>T

1 paper

NM_007294.4

p.P727R

c.2180C>G

1 paper

NM_007294.4

p.R728_E729insFs

c.2184_2185insT

4 papers

NM_007294.4

p.E729*

c.2185G>T