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

2 papers

NM_007294.4

p.S632fs

c.1894_1895fs

Surrounding Variants

1 paper

NM_007294.4

p.S632S

c.1896C>T

15 papers

NM_007294.4

p.S632N

c.1895G>A

13 papers

NM_007294.4

p.P633S

c.1897C>T

2 papers

NM_007294.4

p.P633T

c.1897C>A

3 papers

NM_007294.4

p.P633L

c.1898C>T

2 papers

NM_007294.4

p.P633insFs

c.1898_1899insTT

5 papers

NM_007294.4

p.S632fs

c.1894_1895fs

1 paper

NM_007294.4

p.L631delFs

c.1892_1893delTA

1 paper

NM_007294.4

p.L631L

c.1893A>G

1 paper

NM_007294.4

p.L631L

c.1893A>C

10 papers

NM_007294.4

p.L631insFs

c.1892dupT

1 paper

NM_007294.4

p.P633_P634insFs

c.1899_1900insTT