Varaico: Literature-Extracted Genetic Variants

Gene:CHDH
Variant:p.D507E

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.D507E
c.1521C>G
Surrounding Variants
4 papers
NM_018397.5
p.D507N
c.1519G>A
1 paper
NM_018397.5
p.Y510C
c.1529A>G
1 paper
NM_018397.5
p.S494L
c.1481C>T
1 paper
NM_018397.5
p.Q493*
c.1477C>T
1 paper
NM_018397.5
p.D523N
c.1567G>A
1 paper
NM_018397.5
p.P488_H491del0
c.1462_1473del12
1 paper
NM_018397.5
p.L478_H491delFs
c.1432_1471del40
1 paper
NM_018397.5
p.G489E
c.1466G>A
1 paper
NM_018397.5
p.P488S
c.1462C>T
1 paper
NM_018397.5
p.Q487*
c.1459C>T
1 paper
NM_018397.5
p.P530insFs
c.1588_1589insC
2 papers
NM_018397.5
p.R482*
c.1444C>T
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