Varaico: Literature-Extracted Genetic Variants

Gene:CHDH
Variant:p.R10insFs

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.R10insFs
c.28dupC
Surrounding Variants
1 paper
NM_018397.5
p.R10G
c.28C>G
1 paper
NM_018397.5
p.G12delFs
c.35delC
1 paper
NM_018397.5
p.A13T
c.37G>A
1 paper
NM_018397.5
p.R6_G7Fs
c.18_19delinsAFs
1 paper
NM_018397.5
p.G7S
c.19G>A
1 paper
NM_018397.5
p.L14V
c.40C>G
1 paper
NM_018397.5
p.R6R
c.18A>T
1 paper
NM_018397.5
p.R6R
c.18A>C
1 paper
NM_018397.5
p.R16G
c.46C>G
1 paper
NM_018397.5
p.L4insFs
c.11dupT
1 paper
NM_018397.5
p.R16Q
c.47G>A
1 paper
NM_018397.5
p.G17*
c.49G>T
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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."