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

70 papers

NM_007294.4

p.R1726_K1727delFs

c.5177_5180del4

Surrounding Variants

3 papers

NM_007294.4

p.K1727N

c.5181A>T

3 papers

NM_007294.4

p.K1727N

c.5181A>C

2 papers

NM_007294.4

p.M1728fs

c.5182_5183fs

3 papers

NM_007294.4

p.M1728L

c.5182A>T

3 papers

NM_007294.4

p.K1727I

c.5180A>T

5 papers

NM_007294.4

p.K1727R

c.5180A>G

3 papers

NM_007294.4

p.M1728V

c.5182A>G

3 papers

NM_007294.4

p.M1728L

c.5182A>C

3 papers

NM_007294.4

p.K1727T

c.5180A>C

1 paper

NM_007294.4

p.M1728insFs

c.5182_5183insC

1 paper

NM_007294.4

p.M1728insFs

c.5183_5184insC

1 paper

NM_007294.4

p.M1728insFs

c.5182dupA