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.S148R

c.444C>A

Surrounding Variants

1 paper

NM_000465.4

p.S148R

c.444C>G

1 paper

NM_000465.4

p.S148N

c.443G>A

1 paper

NM_000465.4

p.P149S

c.445C>T

2 papers

NM_000465.4

p.S148G

c.442A>G

1 paper

NM_000465.4

p.S148R

c.442A>C

33 papers

NM_000465.4

p.R150*

c.448C>T

1 paper

NM_000465.4

p.W146delFs

c.438delC

4 papers

NM_000465.4

p.R150L

c.449G>T

1 paper

NM_000465.4

p.R150Q

c.449G>A

1 paper

NM_000465.4

p.W146C

c.438G>T

1 paper

NM_000465.4

p.W146C

c.438G>C

5 papers

NM_000465.4

p.W146*

c.438G>A