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

5 papers

NM_000465.4

p.R337*

c.1009A>T

Surrounding Variants

3 papers

NM_000465.4

p.R337G

c.1009A>G

2 papers

NM_000465.4

p.R337K

c.1010G>A

3 papers

NM_000465.4

p.C336Y

c.1007G>A

1 paper

NM_000465.4

p.T338N

c.1013C>A

1 paper

NM_000465.4

p.R335*

c.1003A>T

1 paper

NM_000465.4

p.S339R

c.1015A>C

1 paper

NM_000465.4

p.R335Fs

c.1003delinsGAFs

1 paper

NM_000465.4

p.K334N

c.1002G>T

1 paper

NM_001282543.2

p.K315fs

c.943_944fs

1 paper

NM_000465.4

p.S339T

c.1016G>C

1 paper

NM_000465.4

p.K334N

c.1002G>C

4 papers

NM_000465.4

p.S339N

c.1016G>A