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.V767V

c.2301G>A

Surrounding Variants

9 papers

NM_000465.4

p.V767fs

c.2299_2300fs

1 paper

NM_000465.4

p.M768fs

c.2302_2303fs

16 papers

NM_000465.4

p.V767delFs

c.2300_2301delCA

3 papers

NM_000465.4

p.V767_M768Fs

c.2301_2303delinsACATCFs

6 papers

NM_000465.4

p.V767fs

c.2299_2300fs

1 paper

NM_000465.4

p.M768I

c.2304G>T

1 paper

NM_000465.4

p.M768insFs

c.2303dupT

1 paper

NM_000465.4

p.M768I

c.2304G>C

1 paper

NM_000465.4

p.M768I

c.2304G>A

1 paper

NM_000465.4

p.C766_V767ins4

c.2296_2300ins12

1 paper

NM_000465.4

p.C766R

c.2296T>C

1 paper

NM_000465.4

p.S769F

c.2306C>T