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.P331S

c.991C>T

Surrounding Variants

1 paper

NM_000465.4

p.P331_I332insTA

c.991_995ins6

2 papers

NM_000465.4

p.P331L

c.992C>T

1 paper

NM_000465.4

p.P331R

c.992C>G

1 paper

NM_000465.4

p.S330I

c.989G>T

1 paper

NM_000465.4

p.S330T

c.989G>C

1 paper

NM_000465.4

p.S330N

c.989G>A

1 paper

NM_000465.4

p.S329F

c.986C>T

1 paper

NM_000465.4

p.S329insFs

c.985_986insA

1 paper

NM_000465.4

p.L328F

c.982C>T

4 papers

NM_000465.4

p.S333delFs

c.998_999delAG

1 paper

NM_000465.4

p.K334N

c.1002G>T

1 paper

NM_001282543.2

p.K315fs

c.943_944fs