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.N318Fs

c.953delinsTGTFs

Surrounding Variants

2 papers

NM_000465.4

p.N318K

c.954T>G

2 papers

NM_000465.4

p.N318K

c.954T>A

1 paper

NM_000465.4

p.N319H

c.955A>C

1 paper

NM_000465.4

p.E317Q

c.949G>C

1 paper

NM_000465.4

p.G320*

c.958G>T

4 papers

NM_000465.4

p.L316*

c.947T>G

4 papers

NM_000465.4

p.L316*

c.947T>A

2 papers

NM_000465.4

p.L316V

c.946T>G

1 paper

NM_000465.4

p.P315delFs

c.943_944delGG

2 papers

NM_000465.4

p.P315L

c.944C>T

1 paper

NM_000465.4

p.K321R

c.962A>G

1 paper

NM_000465.4

p.P315S

c.943C>T