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.L431*

c.1292T>A

Surrounding Variants

1 paper

NM_000465.4

p.L432F

c.1294C>T

1 paper

NM_000465.4

p.L432I

c.1294C>A

1 paper

NM_000465.4

p.L432P

c.1295T>C

3 papers

NM_000465.4

p.T430S

c.1289C>G

3 papers

NM_000465.4

p.T430S

c.1288A>T

1 paper

NM_000465.4

p.E429fs

c.1285_1286fs

1 paper

NM_000465.4

p.H433Y

c.1297C>T

6 papers

NM_000465.4

p.H433R

c.1298A>G

2 papers

NM_000465.4

p.H433P

c.1298A>C

1 paper

NM_000465.4

p.E429A

c.1286A>C

1 paper

NM_000465.4

p.E429K

c.1285G>A

3 papers

NM_000465.4

p.I434F

c.1300A>T