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.Q701L

c.2102A>T

Surrounding Variants

2 papers

NM_000465.4

p.Q701H

c.2103G>T

2 papers

NM_000465.4

p.Q701H

c.2103G>C

1 paper

NM_000465.4

p.Q701K

c.2101C>A

1 paper

NM_000465.4

p.G700fs

c.2098_2099fs

3 papers

NM_000465.4

p.G700delFs

c.2099delC

1 paper

NM_000465.4

p.I702N

c.2105T>A

2 papers

NM_000465.4

p.G700C

c.2098G>T

1 paper

NM_000465.4

p.G700S

c.2098G>A

1 paper

NM_000465.4

p.I702M

c.2106C>G

1 paper

NM_000465.4

p.G700fs

c.2098_2099fs

1 paper

NM_000465.4

p.G698insFs

c.2093_2094dupGT

1 paper

NM_000465.4

p.S704I

c.2111G>T