Varaico: Literature-Extracted Genetic Variants

Gene:CHDH
Variant:p.R482*

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
2 papers
NM_018397.5
p.R482*
c.1444C>T
Surrounding Variants
1 paper
NM_018397.5
p.L478fs
c.1432_1433fs
1 paper
NM_018397.5
p.A477A
c.1431C>T
1 paper
NM_018397.5
p.Q487*
c.1459C>T
1 paper
NM_018397.5
p.P488S
c.1462C>T
1 paper
NM_018397.5
p.Q475Q
c.1425G>A
1 paper
NM_018397.5
p.G489E
c.1466G>A
1 paper
NM_018397.5
p.A474S
c.1420G>T
1 paper
NM_018397.5
p.L478_H491delFs
c.1432_1471del40
1 paper
NM_018397.5
p.P488_H491del0
c.1462_1473del12
1 paper
NM_018397.5
p.Q493*
c.1477C>T
1 paper
NM_018397.5
p.S494L
c.1481C>T
1 paper
NM_018397.5
p.L468L
c.1404C>T
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