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.K294E

c.880A>G

Surrounding Variants

1 paper

NM_007294.4

p.K294*

c.880A>T

5 papers

NM_007294.4

p.L292_T293delFs

c.876_879del4

1 paper

NM_007294.4

p.T293fs

c.877_878fs

1 paper

NM_007294.4

p.T293T

c.879T>C

1 paper

NM_007294.4

p.T293T

c.879T>A

6 papers

NM_007294.4

p.K294R

c.881A>G

3 papers

NM_007294.4

p.T293I

c.878C>T

4 papers

NM_007294.4

p.T293S

c.878C>G

1 paper

NM_007294.4

p.T293insFs

c.877dupA

1 paper

NM_007294.4

p.T293N

c.878C>A

1 paper

NM_007294.4

p.N287_L292del6

c.859_875del18

1 paper

NM_007294.4

p.K294N

c.882A>T