Varaico: Literature-Extracted Genetic Variants

Gene:CHDH
Variant:p.N280K

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.N280K
c.840T>G
Surrounding Variants
1 paper
NM_018397.5
p.K279R
c.836A>G
1 paper
NM_018397.5
p.V275M
c.823G>A
1 paper
NM_018397.5
p.G274A
c.821G>C
2 papers
NM_018397.5
p.R271H
c.812G>A
1 paper
NM_018397.5
p.R271C
c.811C>T
1 paper
NM_018397.5
p.G269A
c.806G>C
1 paper
NM_018397.5
p.V262V
c.786G>C
1 paper
NM_018397.5
p.L261V
c.781C>G
1 paper
NM_018397.5
p.T260M
c.779C>T
1 paper
NM_018397.5
p.E257K
c.769G>A
1 paper
NM_018397.5
p.T252N
c.755C>A
1 paper
NM_018397.5
p.R251H
c.752G>A
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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."