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.D346A

c.1037A>C

Surrounding Variants

1 paper

NM_000465.4

p.S339_D346del0

c.1017_1037del21

1 paper

NM_000465.4

p.D346Y

c.1036G>T

3 papers

NM_000465.4

p.I340_D346del0

c.1018_1038del21

1 paper

NM_000465.4

p.S339_D346del8

c.1015_1037del24

1 paper

NM_000465.4

p.G345E

c.1034G>A

1 paper

NM_000465.4

p.S344fs

c.1030_1031fs

4 papers

NM_000465.4

p.S344R

c.1032T>G

4 papers

NM_000465.4

p.S344R

c.1032T>A

2 papers

NM_000465.4

p.V348I

c.1042G>A

4 papers

NM_000465.4

p.S344R

c.1030A>C

1 paper

NM_000465.4

p.T343delFs

c.1029delG

1 paper

NM_000465.4

p.F347_V348delins

c.1041_1044delinsT