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

45 papers

NM_007294.4

p.E597K

c.1789G>A

Surrounding Variants

18 papers

NM_007294.4

p.E597*

c.1789G>T

1 paper

NM_007294.4

p.E597_L598ins4

c.1789_1793ins12

1 paper

NM_007294.4

p.E597Q

c.1789G>C

1 paper

NM_007294.4

p.N593_L596del4

c.1777_1787del12

3 papers

NM_007294.4

p.L596L

c.1788C>T

1 paper

NM_007294.4

p.L596fs

c.1786_1787fs

1 paper

NM_007294.4

p.L596delFs

c.1786delG

1 paper

NM_007294.4

p.E597E

c.1791A>G

1 paper

NM_007294.4

p.E597insFs

c.1790dupA

3 papers

NM_007294.4

p.L598V

c.1792T>G

1 paper

NM_007294.4

p.L598L

c.1792T>C

3 papers

NM_007294.4

p.E597delFs

c.1791delT