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

52 papers

NM_007294.4

p.V1809F

c.5425G>T

Surrounding Variants

1 paper

NM_007294.4

p.V1809fs

c.5425_5426fs

1 paper

NM_007294.4

p.V1809L

c.5425G>C

7 papers

NM_007294.4

p.V1809I

c.5425G>A

3 papers

NM_007294.4

p.V1809G

c.5426T>G

19 papers

NM_007294.4

p.V1809A

c.5426T>C

4 papers

NM_007294.4

p.V1809D

c.5426T>A

1 paper

NM_007294.4

p.V1808V

c.5424G>C

1 paper

NM_007294.4

p.V1808delFs

c.5423delA

2 papers

NM_007294.4

p.V1809fs

c.5425_5426fs

2 papers

NM_007294.4

p.V1808G

c.5423T>G

16 papers

NM_007294.4

p.V1808A

c.5423T>C

3 papers

NM_007294.4

p.V1808E

c.5423T>A