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

3 papers

NM_000465.4

p.T716fs

c.2146_2147fs

Surrounding Variants

1 paper

NM_000465.4

p.I717fs

c.2149_2150fs

3 papers

NM_000465.4

p.T716_I717delFs

c.2148_2149delTG

3 papers

NM_000465.4

p.T716A

c.2146A>G

1 paper

NM_000465.4

p.I717fs

c.2149_2150fs

4 papers

NM_000465.4

p.Q715R

c.2144A>G

6 papers

NM_000465.4

p.Q715*

c.2143C>T

1 paper

NM_000465.4

p.N718S

c.2153A>G

3 papers

NM_000465.4

p.T719A

c.2155A>G

2 papers

NM_000465.4

p.T719R

c.2156C>G

1 paper

NM_000465.4

p.N718insFs

c.2153_2154dupAT

1 paper

NM_000465.4

p.T714A

c.2140A>G

1 paper

NM_000465.4

p.V720A

c.2159T>C