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

23 papers

NM_000465.4

p.R21G

c.61C>G

Surrounding Variants

4 papers

NM_000465.4

p.R21C

c.61C>T

1 paper

NM_000465.4

p.P12_P20del0

c.36_59del24

1 paper

NM_000465.4

p.P7_P20del0

c.21_59del39

1 paper

NM_000465.4

p.R21L

c.62G>T

1 paper

NM_000465.4

p.P12_P20del9

c.34_59del27

1 paper

NM_000465.4

p.P20L

c.59C>T

3 papers

NM_000465.4

p.E19D

c.57G>T

3 papers

NM_000465.4

p.E19D

c.57G>C

1 paper

NM_000465.4

p.S22S

c.66C>A

1 paper

NM_000465.4

p.E19ins1

c.56_57insGCC

2 papers

NM_000465.4

p.E19*

c.55G>T

2 papers

NM_000465.4

p.E19K

c.55G>A