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.L631L

c.1893A>C

Surrounding Variants

1 paper

NM_007294.4

p.L631L

c.1893A>G

10 papers

NM_007294.4

p.L631insFs

c.1892dupT

1 paper

NM_007294.4

p.L631_S632insFs

c.1893_1894ins14

1 paper

NM_007294.4

p.R629_L631delFs

c.1886_1892del7

5 papers

NM_007294.4

p.S632fs

c.1894_1895fs

1 paper

NM_007294.4

p.L631delFs

c.1892_1893delTA

15 papers

NM_007294.4

p.S632N

c.1895G>A

1 paper

NM_007294.4

p.L631L

c.1891C>T

1 paper

NM_007294.4

p.N630insFs

c.1889_1890dupAT

1 paper

NM_007294.4

p.L631_S632insT

c.1891_1895ins3

1 paper

NM_007294.4

p.L631I

c.1891C>A

1 paper

NM_007294.4

p.N630delFs

c.1890delA