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

6 papers

NM_000465.4

p.K312N

c.936A>C

Surrounding Variants

6 papers

NM_000465.4

p.K312N

c.936A>T

1 paper

NM_000465.4

p.K312K

c.936A>G

1 paper

NM_000465.4

p.K312R

c.935A>G

1 paper

NM_000465.4

p.S313C

c.938C>G

1 paper

NM_000465.4

p.K311N

c.933G>T

1 paper

NM_000465.4

p.K311N

c.933G>C

1 paper

NM_000465.4

p.L314fs

c.940_941fs

1 paper

NM_000465.4

p.L314*

c.941T>A

1 paper

NM_000465.4

p.L314F

c.942G>C

1 paper

NM_000465.4

p.L314delFs

c.940_941delAA

1 paper

NM_000465.4

p.P315S

c.943C>T

2 papers

NM_000465.4

p.S310Y

c.929C>A