Varaico: Literature-Extracted Genetic Variants

Gene:CHDH
Variant:p.N441S

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
6 papers
NM_018397.5
p.N441S
c.1322A>G
Surrounding Variants
1 paper
NM_018397.5
p.S439G
c.1315A>G
2 papers
NM_018397.5
p.V447M
c.1339G>A
1 paper
NM_018397.5
p.W434delFs
c.1302delC
1 paper
NM_018397.5
p.I448N
c.1343T>A
1 paper
NM_018397.5
p.G433S
c.1297G>A
1 paper
NM_018397.5
p.P450A
c.1348C>G
1 paper
NM_018397.5
p.V432A
c.1295T>C
1 paper
NM_018397.5
p.R428W
c.1282C>T
1 paper
NM_018397.5
p.R428G
c.1282C>G
1 paper
NM_018397.5
p.P426S
c.1276C>T
1 paper
NM_018397.5
p.G425R
c.1273G>A
2 papers
NM_018397.5
p.Q421_V422Splc
c.1264-7C>A
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