Varaico: Literature-Extracted Genetic Variants

Gene:CHDH
Variant:p.S239insFs

CHDH

521 papers

RefSeq Summary

The protein encoded by this gene is a choline dehydrogenase that localizes to the mitochondrion. Variations in this gene can affect susceptibility to choline deficiency. A few transcript variants have...

Pfam Domains

GMC_oxred_Naa 41–339UCSCGMC oxidoreductase
GMC_oxred_Caa 429–564UCSCGMC oxidoreductase

Gene Aliases

HGNC Name

choline dehydrogenase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018397.5
p.S239insFs
c.716_717insG
Surrounding Variants
1 paper
NM_018397.5
p.S239S
c.717C>T
1 paper
NM_018397.5
p.A240A
c.720G>A
1 paper
NM_018397.5
p.A241V
c.722C>T
3 papers
NM_018397.5
p.R237W
c.709C>T
1 paper
NM_018397.5
p.A241_C242del1
c.723_725delCAG
1 paper
NM_018397.5
p.Y244insFs
c.730_731insT
1 paper
NM_018397.5
p.A248T
c.742G>A
1 paper
NM_018397.5
p.L249P
c.746T>C
1 paper
NM_018397.5
p.S250G
c.748A>G
1 paper
NM_018397.5
p.R251H
c.752G>A
1 paper
NM_018397.5
p.T252N
c.755C>A
1 paper
NM_018397.5
p.E257K
c.769G>A
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