Varaico: Literature-Extracted Genetic Variants

Gene:ARK2C
Variant:p.Q47H

ARK2C

32 papers

Pfam Domains

zf-RING_2aa 292–335UCSCRing finger domain

Gene Aliases

HGNC Name

arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C

HGNC Previous Symbol

RNF165

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152470.3
p.Q47H
c.141G>C
Surrounding Variants
1 paper
NM_152470.3
p.Q47Q
c.141G>A
1 paper
NM_152470.3
p.Q47H
c.141G>T
1 paper
NM_152470.3
p.Q44*
c.130C>T
1 paper
NM_152470.3
p.R36H
c.107G>A
1 paper
NM_152470.3
p.Q61K
c.181C>A
1 paper
NM_152470.3
p.G63V
c.188G>T
1 paper
NM_152470.3
p.Q112H
c.336G>C
1 paper
NM_152470.3
p.Q112H
c.336G>T
1 paper
NM_152470.3
p.L114L
c.340C>T
1 paper
NM_152470.3
p.R119R
c.357C>A
2 papers
NM_152470.3
p.R120M
c.359G>T
1 paper
NM_152470.3
p.R138C
c.412C>T
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