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

24 papers

NM_000465.4

p.N470S

c.1409A>G

Surrounding Variants

4 papers

NM_000465.4

p.H471Y

c.1411C>T

1 paper

NM_000465.4

p.C469*

c.1407C>A

1 paper

NM_000465.4

p.C469S

c.1406G>C

1 paper

NM_000465.4

p.H471R

c.1412A>G

1 paper

NM_000465.4

p.C469S

c.1405T>A

1 paper

NM_000465.4

p.G472E

c.1415G>A

6 papers

NM_000465.4

p.E467A

c.1400A>C

1 paper

NM_000465.4

p.E467Q

c.1399G>C

5 papers

NM_000465.4

p.E467K

c.1399G>A

2 papers

NM_000465.4

p.H466L

c.1397A>T

2 papers

NM_000465.4

p.H466R

c.1397A>G

1 paper

NM_000465.4

p.H466P

c.1397A>C