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.M414V

c.1240A>G

Surrounding Variants

1 paper

NM_000465.4

p.M414L

c.1240A>C

1 paper

NM_000465.4

p.M414delFs

c.1240delT

2 papers

NM_000465.4

p.M414I

c.1242G>T

1 paper

NM_000465.4

p.M414fs

c.1240_1241fs

2 papers

NM_000465.4

p.M414I

c.1242G>C

2 papers

NM_000465.4

p.M414I

c.1242G>A

2 papers

NM_000465.4

p.A413T

c.1237G>A

1 paper

NM_000465.4

p.Y404_S412delFs

c.1211_1235del25

1 paper

NM_000465.4

p.K415R

c.1244A>G

1 paper

NM_000465.4

p.K415T

c.1244A>C

5 papers

NM_000465.4

p.L416R

c.1247T>G

2 papers

NM_000465.4

p.P411H

c.1232C>A