Varaico: Literature-Extracted Genetic Variants

Gene:CHDH
Variant:p.S190Y

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.S190Y
c.569C>A
Surrounding Variants
5 papers
NM_018397.5
p.R191P
c.572G>C
1 paper
NM_018397.5
p.P186L
c.557C>T
1 paper
NM_018397.5
p.A183V
c.548C>T
1 paper
NM_018397.5
p.A183S
c.547G>T
1 paper
NM_018397.5
p.L198insFs
c.592dupC
1 paper
NM_018397.5
p.Y180F
c.539A>T
1 paper
NM_018397.5
p.A201A
c.603A>G
1 paper
NM_018397.5
p.G176S
c.526G>A
1 paper
NM_018397.5
p.G172G
c.516C>T
1 paper
NM_018397.5
p.Q171insFs
c.512_513insGC
1 paper
NM_018397.5
p.G210S
c.628G>A
2 papers
NM_018397.5
p.A170V
c.509C>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."