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.I650_K651insFs

c.1950_1951insG

Surrounding Variants

1 paper

NM_007294.4

p.I650I

c.1950A>C

1 paper

NM_007294.4

p.I650insFs

c.1949dupT

1 paper

NM_007294.4

p.I650delFs

c.1949delA

2 papers

NM_007294.4

p.I650R

c.1949T>G

1 paper

NM_007294.4

p.I650K

c.1949T>A

1 paper

NM_007294.4

p.K651E

c.1951A>G

2 papers

NM_007294.4

p.K651Q

c.1951A>C

6 papers

NM_007294.4

p.I650delFs

c.1949_1950delTA

2 papers

NM_007294.4

p.K651R

c.1952A>G

1 paper

NM_007294.4

p.I650V

c.1948A>G

4 papers

NM_007294.4

p.K651insFs

c.1952_1953insG

1 paper

NM_007294.4

p.I650fs

c.1948_1949fs