Varaico: Literature-Extracted Genetic Variants

Gene:CHDH
Variant:p.L78R

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
10 papers
NM_018397.5
p.L78R
c.233T>G
Surrounding Variants
1 paper
NM_018397.5
p.A79V
c.236C>T
1 paper
NM_018397.5
p.V77M
c.229G>A
2 papers
NM_018397.5
p.G80R
c.238G>A
1 paper
NM_018397.5
p.G80E
c.239G>A
1 paper
NM_018397.5
p.G73delFs
c.218delC
1 paper
NM_018397.5
p.S85T
c.253T>A
1 paper
NM_018397.5
p.L68M
c.202C>A
1 paper
NM_018397.5
p.H89H
c.267C>T
1 paper
NM_018397.5
p.R66H
c.197G>A
1 paper
NM_018397.5
p.P91S
c.271C>T
1 paper
NM_018397.5
p.A92S
c.274G>T
1 paper
NM_018397.5
p.A92T
c.274G>A
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