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

4 papers

NM_000465.4

p.S16C

c.47C>G

Surrounding Variants

1 paper

NM_000465.4

p.S16F

c.47C>T

3 papers

NM_000465.4

p.G17R

c.49G>C

4 papers

NM_000465.4

p.G17R

c.49G>A

1 paper

NM_000465.4

p.R10_R15ins2

c.30_44dup15

1 paper

NM_000465.4

p.R15L

c.44G>T

2 papers

NM_000465.4

p.S16_G17delins

c.47_50delinsAATT

1 paper

NM_000465.4

p.R15S

c.43C>A

1 paper

NM_000465.4

p.N18fs

c.52_53fs

1 paper

NM_000465.4

p.N18_E19insGCG

c.52_56ins9

1 paper

NM_000465.4

p.G17delFs

c.51delC

1 paper

NM_000465.4

p.N9_I14ins2

c.26_40dup15

1 paper

NM_000465.4

p.I14N

c.41T>A