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

2 papers

NM_000465.4

p.G491R

c.1471G>A

Surrounding Variants

3 papers

NM_000465.4

p.G491W

c.1471G>T

2 papers

NM_000465.4

p.G491R

c.1471G>C

1 paper

NM_000465.4

p.T490I

c.1469C>T

1 paper

NM_000465.4

p.Y492H

c.1474T>C

3 papers

NM_000465.4

p.T490P

c.1468A>C

2 papers

NM_000465.4

p.T489I

c.1466C>T

1 paper

NM_000465.4

p.Q493E

c.1477C>G

2 papers

NM_000465.4

p.Q493H

c.1479A>T

1 paper

NM_000465.4

p.Q493Q

c.1479A>G

1 paper

NM_000465.4

p.N488S

c.1463A>G

4 papers

NM_000465.4

p.Q493H

c.1479A>C

1 paper

NM_000465.4

p.V487_N488delins

c.1461_1462delinsCA