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

3 papers

NM_000465.4

p.I509_V510insFs

c.1525_1528dup4

Surrounding Variants

1 paper

NM_000465.4

p.V510A

c.1529T>C

1 paper

NM_000465.4

p.V510F

c.1528G>T

1 paper

NM_000465.4

p.V510fs

c.1528_1529fs

1 paper

NM_000465.4

p.V510fs

c.1528_1529fs

4 papers

NM_000465.4

p.I509T

c.1526T>C

1 paper

NM_000465.4

p.I509_V510delFs

c.1527_1530del4

1 paper

NM_000465.4

p.I509V

c.1525A>G

1 paper

NM_000465.4

p.D508G

c.1523A>G

1 paper

NM_000465.4

p.L512delFs

c.1535delA

1 paper

NM_000465.4

p.V507delFs

c.1520_1521delCA

1 paper

NM_000465.4

p.L513*

c.1538T>G

1 paper

NM_000465.4

p.V507A

c.1520T>C