Varaico: Literature-Extracted Genetic Variants

Gene:CH25H
Variant:p.N219N

CH25H

40 papers

RefSeq Summary

This is an intronless gene that is involved in cholesterol and lipid metabolism. The encoded protein is a membrane protein and contains clusters of histidine residues essential for catalytic activity....

Pfam Domains

FA_hydroxylaseaa 128–263UCSCFatty acid hydroxylase

Gene Aliases

HGNC Name

cholesterol 25-hydroxylase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003956.4
p.N219N
c.657C>T
Surrounding Variants
1 paper
NM_003956.4
p.N219S
c.656A>G
1 paper
NM_003956.4
p.R226I
c.677G>T
1 paper
NM_003956.4
p.H225_R226delFs
c.675_676delTG
1 paper
NM_003956.4
p.H225_R226del2
c.673_677del6
1 paper
NM_003956.4
p.H239N
c.715C>A
1 paper
NM_003956.4
p.P197Q
c.590C>A
1 paper
NM_003956.4
p.G194R
c.580G>C
1 paper
NM_003956.4
p.G194R
c.580G>A
1 paper
NM_003956.4
p.C248G
c.742T>G
1 paper
NM_003956.4
p.V190I
c.568G>A
1 paper
NM_003956.4
p.M187T
c.560T>C
1 paper
NM_003956.4
p.H256Y
c.766C>T
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