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

2 papers

NM_000465.4

p.P246P

c.738A>G

Surrounding Variants

1 paper

NM_000465.4

p.P246fs

c.736_737fs

1 paper

NM_000465.4

p.S247A

c.739T>G

1 paper

NM_000465.4

p.S247P

c.739T>C

1 paper

NM_000465.4

p.S247F

c.740C>T

1 paper

NM_000465.4

p.S247C

c.740C>G

2 papers

NM_000465.4

p.P246T

c.736C>A

1 paper

NM_000465.4

p.P246_S247delFs

c.738_739delAT

2 papers

NM_000465.4

p.Q245delFs

c.735delT

2 papers

NM_000465.4

p.Q245fs

c.733_734fs

9 papers

NM_000465.4

p.Q245*

c.733C>T

1 paper

NM_000465.4

p.I249fs

c.745_746fs

2 papers

NM_000465.4

p.I249V

c.745A>G