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.E1725_R1726insG

c.5173_5177ins3

Surrounding Variants

12 papers

NM_007294.4

p.E1725*

c.5173G>T

11 papers

NM_007294.4

p.K1724insFs

c.5172dupA

4 papers

NM_007294.4

p.E1725Q

c.5173G>C

4 papers

NM_007294.4

p.E1725K

c.5173G>A

1 paper

NM_007294.4

p.K1724delFs

c.5171delT

1 paper

NM_007297.4

p.S1675_K1677del3

c.5023_5030del9

6 papers

NM_007294.4

p.E1725fs

c.5173_5174fs

6 papers

NM_007294.4

p.K1724N

c.5172A>T

4 papers

NM_007294.4

p.E1725V

c.5174A>T

4 papers

NM_007294.4

p.E1725G

c.5174A>G

3 papers

NM_007294.4

p.K1724K

c.5172A>G

7 papers

NM_007294.4

p.K1724N

c.5172A>C