Varaico: Literature-Extracted Genetic Variants

BARD1

1,331 papers

RefSeq Summary

This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of ...

Pfam Domains

zf-RING_6aa 41–83UCSCzf-RING of BARD1-type protein

zf-RING_6aa 41–105UCSCzf-RING of BARD1-type protein

BRCTaa 116–189UCSCBRCA1 C Terminus (BRCT) domain

Ankaa 427–459UCSCAnkyrin repeat

Ankaa 460–492UCSCAnkyrin repeat

Ankaa 493–525UCSCAnkyrin repeat

Gene Aliases

HGNC Name

BRCA1 associated RING domain 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

14 papers

NM_000465.4

p.C639R

c.1915T>C

Surrounding Variants

1 paper

NM_000465.4

p.A638fs

c.1912_1913fs

1 paper

NM_000465.4

p.C639W

c.1917T>G

1 paper

NM_000465.4

p.A638V

c.1913C>T

1 paper

NM_000465.4

p.K637delFs

c.1911delT

3 papers

NM_000465.4

p.L640I

c.1918C>A

1 paper

NM_000465.4

p.K637fs

c.1909_1910fs

44 papers

NM_000465.4

p.R641*

c.1921C>T

1 paper

NM_000465.4

p.R641insFs

c.1921_1922ins20

3 papers

NM_000465.4

p.R641Q

c.1922G>A

2 papers

NM_000465.4

p.R641fs

c.1921_1922fs

1 paper

NM_000465.4

p.R642G

c.1924A>G

10 papers

NM_000465.4

p.W635*

c.1905G>A