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.S376*

c.1127C>G

Surrounding Variants

4 papers

NM_000465.4

p.S376L

c.1127C>T

1 paper

NM_000465.4

p.S376*

c.1127C>A

1 paper

NM_000465.4

p.T375A

c.1123A>G

1 paper

NM_000465.4

p.T375_S376insGTC

c.1123_1127ins9

1 paper

NM_000465.4

p.R378T

c.1133G>C

71 papers

NM_000465.4

p.R378S

c.1134G>T

71 papers

NM_000465.4

p.R378S

c.1134G>C

1 paper

NM_000465.4

p.G373G

c.1119T>A

1 paper

NM_000465.4

p.K379*

c.1135A>T

1 paper

NM_000465.4

p.G373A

c.1118G>C

1 paper

NM_000465.4

p.G373D

c.1118G>A

1 paper

NM_000465.4

p.K379R

c.1136A>G