Varaico: Literature-Extracted Genetic Variants

Gene:CHDH
Variant:p.W105R

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.W105R
c.313T>A
Surrounding Variants
1 paper
NM_018397.5
p.W105R
c.313T>C
1 paper
NM_018397.5
p.W105insFs
c.315dupG
1 paper
NM_018397.5
p.H108L
c.323A>T
1 paper
NM_018397.5
p.D101A
c.302A>C
1 paper
NM_018397.5
p.T109R
c.326C>G
1 paper
NM_018397.5
p.D100N
c.298G>A
1 paper
NM_018397.5
p.C99F
c.296G>T
1 paper
NM_018397.5
p.V111M
c.331G>A
1 paper
NM_018397.5
p.L115R
c.344T>G
1 paper
NM_018397.5
p.D116H
c.346G>C
1 paper
NM_018397.5
p.D116D
c.348C>T
1 paper
NM_018397.5
p.G117D
c.350G>A
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