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

1 paper

NM_000465.4

p.E301insFs

c.902dupA

Surrounding Variants

1 paper

NM_000465.4

p.E301delFs

c.902delT

1 paper

NM_000465.4

p.E301K

c.901G>A

1 paper

NM_000465.4

p.E301fs

c.901_902fs

2 papers

NM_000465.4

p.P300fs

c.898_899fs

3 papers

NM_000465.4

p.P300L

c.899C>T

1 paper

NM_000465.4

p.P300H

c.899C>A

1 paper

NM_000465.4

p.P300fs

c.898_899fs

2 papers

NM_000465.4

p.T299T

c.897T>A

2 papers

NM_000465.4

p.T299delFs

c.895_896delGT

2 papers

NM_000465.4

p.T299I

c.896C>T

5 papers

NM_000465.4

p.T299insFs

c.896_897insG

1 paper

NM_000465.4

p.T299insFs

c.895_896ins4