Varaico: Literature-Extracted Genetic Variants

Gene:CHDH
Variant:p.G17G

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.G17G
c.51A>G
Surrounding Variants
1 paper
NM_018397.5
p.A18T
c.52G>A
1 paper
NM_018397.5
p.G17*
c.49G>T
1 paper
NM_018397.5
p.G17R
c.49G>C
1 paper
NM_018397.5
p.R16Q
c.47G>A
1 paper
NM_018397.5
p.A18delFs
c.53delG
1 paper
NM_018397.5
p.R16G
c.46C>G
1 paper
NM_018397.5
p.L14V
c.40C>G
2 papers
NM_018397.5
p.Q22*
c.64C>T
1 paper
NM_018397.5
p.Q22K
c.64C>A
1 paper
NM_018397.5
p.A13T
c.37G>A
1 paper
NM_018397.5
p.Q22P
c.65A>C
1 paper
NM_018397.5
p.G12delFs
c.35delC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."