Varaico: Literature-Extracted Genetic Variants

Gene:CHDH
Variant:p.R152H

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
4 papers
NM_018397.5
p.R152H
c.455G>A
Surrounding Variants
1 paper
NM_018397.5
p.W150C
c.450G>C
1 paper
NM_018397.5
p.G154G
c.462C>T
1 paper
NM_018397.5
p.A155S
c.463G>T
1 paper
NM_018397.5
p.R156H
c.467G>A
1 paper
NM_018397.5
p.E148V
c.443A>T
1 paper
NM_018397.5
p.E148K
c.442G>A
1 paper
NM_018397.5
p.G157S
c.469G>A
1 paper
NM_018397.5
p.D159G
c.476A>G
1 paper
NM_018397.5
p.A144G
c.431C>G
1 paper
NM_018397.5
p.Y160C
c.479A>G
1 paper
NM_018397.5
p.Y160Y
c.480C>T
2 papers
NM_018397.5
p.A161V
c.482C>T
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