Varaico: Literature-Extracted Genetic Variants

Gene:CHDH
Variant:p.S131F

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.S131F
c.392C>T
Surrounding Variants
1 paper
NM_018397.5
p.S131A
c.391T>G
1 paper
NM_018397.5
p.S132A
c.394T>G
1 paper
NM_018397.5
p.V127I
c.379G>A
1 paper
NM_018397.5
p.G125R
c.373G>C
1 paper
NM_018397.5
p.G125S
c.373G>A
1 paper
NM_018397.5
p.V138V
c.414C>T
1 paper
NM_018397.5
p.R124C
c.370C>T
1 paper
NM_018397.5
p.R124S
c.370C>A
1 paper
NM_018397.5
p.W122G
c.364T>G
1 paper
NM_018397.5
p.V140V
c.420C>G
1 paper
NM_018397.5
p.R141C
c.421C>T
1 paper
NM_018397.5
p.V119A
c.356T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."