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.R201K

c.602G>A

Surrounding Variants

1 paper

NM_000465.4

p.R201delFs

c.601delT

1 paper

NM_000465.4

p.R201*

c.601A>T

1 paper

NM_000465.4

p.R201G

c.601A>G

1 paper

NM_000465.4

p.R201fs

c.601_602fs

1 paper

NM_000465.4

p.S202A

c.604T>G

1 paper

NM_000465.4

p.A200A

c.600A>G

2 papers

NM_000465.4

p.A200V

c.599C>T

1 paper

NM_000465.4

p.S202C

c.605C>G

1 paper

NM_000465.4

p.S202fs

c.604_605fs

2 papers

NM_000465.4

p.G203*

c.607G>T

2 papers

NM_000465.4

p.G203R

c.607G>C

2 papers

NM_000465.4

p.G203R

c.607G>A