Varaico: Literature-Extracted Genetic Variants

Gene:CH25H

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
1–12 of 31 variants
2 papers
NM_003956.4
p.Q17H
c.51G>T
2 papers
NM_003956.4
p.Q17H
c.51G>C
2 papers
NM_003956.4
p.N219N
c.657C>T
1 paper
NM_003956.4
p.C52C
c.156C>T
1 paper
NM_003956.4
p.P54insFs
c.162dupC
1 paper
NM_003956.4
p.F55fs
c.163_164fs
1 paper
NM_003956.4
p.P75_D76delFs
c.225_226delCA
1 paper
NM_003956.4
p.S80P
c.238T>C
1 paper
NM_003956.4
p.W107*
c.320G>A
1 paper
NM_003956.4
p.W107*
c.321G>A
1 paper
NM_003956.4
p.L121M
c.361C>A
1 paper
NM_003956.4
p.F135L
c.403T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."