Varaico: Literature-Extracted Genetic Variants

Gene:CH25H
Variant:p.V176A

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
1 paper
NM_003956.4
p.V176A
c.527T>C
Surrounding Variants
1 paper
NM_003956.4
p.M187T
c.560T>C
1 paper
NM_003956.4
p.V190I
c.568G>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.P197Q
c.590C>A
1 paper
NM_003956.4
p.P150A
c.448C>G
1 paper
NM_003956.4
p.L144_L145insFs
c.432_433insA
1 paper
NM_003956.4
p.E138K
c.412G>A
1 paper
NM_003956.4
p.F135L
c.405C>G
1 paper
NM_003956.4
p.F135L
c.405C>A
1 paper
NM_003956.4
p.F135L
c.403T>C
1 paper
NM_003956.4
p.N219S
c.656A>G
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