Varaico: Literature-Extracted Genetic Variants

Gene:CHDH
Variant:p.P394T

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
3 papers
NM_018397.5
p.P394T
c.1180C>A
Surrounding Variants
1 paper
NM_018397.5
p.V393I
c.1177G>A
1 paper
NM_018397.5
p.G392W
c.1174G>T
1 paper
NM_018397.5
p.P396L
c.1187C>T
1 paper
NM_018397.5
p.Q399R
c.1196A>G
1 paper
NM_018397.5
p.I387insFs
c.1159dupA
2 papers
NM_018397.5
p.H401R
c.1202A>G
1 paper
NM_018397.5
p.F402L
c.1204T>C
1 paper
NM_018397.5
p.G385E
c.1154G>A
1 paper
NM_018397.5
p.L403M
c.1207C>A
1 paper
NM_018397.5
p.A379A
c.1137C>T
3 papers
NM_018397.5
p.A379V
c.1136C>T
1 paper
NM_018397.5
p.T378A
c.1132A>G
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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."