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.K124E

c.370A>G

Surrounding Variants

1 paper

NM_000465.4

p.K124K

c.372A>G

3 papers

NM_000465.4

p.E125*

c.373G>T

1 paper

NM_000465.4

p.E125Q

c.373G>C

1 paper

NM_000465.4

p.E125K

c.373G>A

1 paper

NM_000465.4

p.D122G

c.365A>G

1 paper

NM_000465.4

p.E125_D126ins1

c.375_376insGTC

1 paper

NM_000465.4

p.D122Splc

c.365-1G>T

1 paper

NM_000465.4

p.D122Splc

c.365-2A>G

1 paper

NM_000465.4

p.D126fs

c.376_377fs

2 papers

NM_000465.4

p.E125_D126delFs

c.373_377del5

1 paper

NM_000465.4

p.K127E

c.379A>G

1 paper

NM_000465.4

p.D126delFs

c.378delA