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

19 papers

NM_000465.4

p.Q11H

c.33G>C

Surrounding Variants

20 papers

NM_000465.4

p.Q11H

c.33G>T

1 paper

NM_000465.4

p.P12S

c.34C>T

3 papers

NM_000465.4

p.P12L

c.35C>T

1 paper

NM_000465.4

p.R10delFs

c.29delC

5 papers

NM_000465.4

p.R10R

c.30G>C

1 paper

NM_000465.4

p.P12delFs

c.34delG

1 paper

NM_000465.4

p.R13W

c.37A>T

1 paper

NM_000465.4

p.R13K

c.38G>A

1 paper

NM_000465.4

p.R10insFs

c.28_29insT

2 papers

NM_000465.4

p.R13S

c.39G>T

3 papers

NM_000465.4

p.R13S

c.39G>C

2 papers

NM_000465.4

p.N9K

c.27C>A