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.S37G

c.109A>G

Surrounding Variants

1 paper

NM_000465.4

p.S37I

c.110G>T

2 papers

NM_000465.4

p.H36L

c.107A>T

1 paper

NM_000465.4

p.H36R

c.107A>G

2 papers

NM_000465.4

p.H36P

c.107A>C

3 papers

NM_000465.4

p.R38C

c.112C>T

1 paper

NM_000465.4

p.R38_A39insG

c.112_116ins3

1 paper

NM_000465.4

p.R38L

c.113G>T

2 papers

NM_000465.4

p.R38P

c.113G>C

1 paper

NM_000465.4

p.R38H

c.113G>A

1 paper

NM_000465.4

p.A35G

c.104C>G

3 papers

NM_000465.4

p.A39T

c.115G>A

2 papers

NM_000465.4

p.A35T

c.103G>A