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.E530A

c.1589A>C

Surrounding Variants

1 paper

NM_007294.4

p.E530V

c.1589A>T

3 papers

NM_007294.4

p.E530G

c.1589A>G

2 papers

NM_007294.4

p.E530delFs

c.1588delC

1 paper

NM_007294.4

p.E530*

c.1588G>T

1 paper

NM_007294.4

p.E530Q

c.1588G>C

1 paper

NM_007294.4

p.E530D

c.1590A>T

2 papers

NM_007294.4

p.E530E

c.1590A>G

1 paper

NM_007294.4

p.E530D

c.1590A>C

1 paper

NM_007294.4

p.E530fs

c.1588_1589fs

5 papers

NM_007294.4

p.T528_E530delFs

c.1583_1589del7

2 papers

NM_007294.4

p.P529Fs

c.1587delinsCAFs

1 paper

NM_007294.4

p.M531V

c.1591A>G