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.K595*

c.1783A>T

Surrounding Variants

1 paper

NM_000465.4

p.K595Q

c.1783A>C

1 paper

NM_000465.4

p.A594V

c.1781C>T

1 paper

NM_000465.4

p.A594S

c.1780G>T

1 paper

NM_000465.4

p.K596*

c.1786A>T

2 papers

NM_000465.4

p.K596fs

c.1786_1787fs

2 papers

NM_000465.4

p.K596R

c.1787A>G

1 paper

NM_000465.4

p.K596K

c.1788A>G

1 paper

NM_000465.4

p.Y597N

c.1789T>A

1 paper

NM_000465.4

p.Y597Y

c.1791T>C

2 papers

NM_000465.4

p.L592_K593insGA

c.1774_1778ins6

1 paper

NM_000465.4

p.T598A

c.1792A>G

10 papers

NM_000465.4

p.T598I

c.1793C>T