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.S293N

c.878G>A

Surrounding Variants

1 paper

NM_000465.4

p.R294K

c.881G>A

1 paper

NM_000465.4

p.R294R

c.882G>A

7 papers

NM_000465.4

p.N295S

c.884A>G

1 paper

NM_000465.4

p.N295K

c.885T>G

1 paper

NM_000465.4

p.N295K

c.885T>A

2 papers

NM_000465.4

p.K292_N295del4

c.874_884del12

2 papers

NM_000465.4

p.E296insFs

c.886dupG

1 paper

NM_000465.4

p.L282_P289del8

c.844_866del24

1 paper

NM_000465.4

p.E296fs

c.886_887fs

1 paper

NM_000465.4

p.V297I

c.889G>A

1 paper

NM_000465.4

p.S279_P289delFs

c.837_865del29

1 paper

NM_000465.4

p.P289S

c.865C>T