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

40 papers

NM_007294.4

p.K651_K652delFs

c.1953_1956del4

Surrounding Variants

12 papers

NM_007294.4

p.K653fs

c.1957_1958fs

1 paper

NM_007294.4

p.K652N

c.1956A>T

1 paper

NM_007294.4

p.K652N

c.1956A>C

16 papers

NM_007294.4

p.K652fs

c.1954_1955fs

1 paper

NM_007294.4

p.K651_K652del1

c.1953_1955delTTC

2 papers

NM_007294.4

p.K651_K653delFs

c.1953_1957del5

6 papers

NM_007294.4

p.K653N

c.1959A>T

1 paper

NM_007294.4

p.K652I

c.1955A>T

2 papers

NM_007294.4

p.K653K

c.1959A>G

1 paper

NM_007294.4

p.K652R

c.1955A>G

7 papers

NM_007294.4

p.K653N

c.1959A>C

7 papers

NM_007294.4

p.K653fs

c.1957_1958fs