Varaico: Literature-Extracted Genetic Variants

Gene:CHDH
Variant:p.L55M

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
2 papers
NM_018397.5
p.L55M
c.163C>A
Surrounding Variants
2 papers
NM_018397.5
p.V54V
c.162G>A
1 paper
NM_018397.5
p.G52_C53ins0
c.154_159dup6
1 paper
NM_018397.5
p.C53insFs
c.159dupC
3 papers
NM_018397.5
p.R58S
c.174G>C
1 paper
NM_018397.5
p.A51G
c.152C>G
1 paper
NM_018397.5
p.S50*
c.149C>A
1 paper
NM_018397.5
p.S50A
c.148T>G
1 paper
NM_018397.5
p.G49C
c.145G>T
1 paper
NM_018397.5
p.E61G
c.182A>G
1 paper
NM_018397.5
p.E61E
c.183G>A
2 papers
NM_018397.5
p.A64P
c.190G>C
1 paper
NM_018397.5
p.R66H
c.197G>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."