Varaico: Literature-Extracted Genetic Variants

Gene:DHCR24

DHCR24

138 papers

RefSeq Summary

This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The pr...

Pfam Domains

FAD_binding_4aa 72–203UCSCFAD binding domain

Gene Aliases

HGNC Name

24-dehydrocholesterol reductase

HGNC Previous Symbol

DCE

Papers
RefSeq ID
Protein change
DNA change
1–12 of 119 variants
13 papers
NM_014762.4
p.E191K
c.571G>A
12 papers
NM_014762.4
p.K306N
c.918G>T
12 papers
NM_014762.4
p.K306N
c.918G>C
11 papers
NM_014762.4
p.N294T
c.881A>C
10 papers
NM_014762.4
p.Y471S
c.1412A>C
7 papers
NM_014762.4
p.R94H
c.281G>A
7 papers
NM_014762.4
p.R103C
c.307C>T
6 papers
NM_014762.4
p.W151*
c.452G>A
6 papers
NM_014762.4
p.W151*
c.453G>A
6 papers
NM_014762.4
p.E480K
c.1438G>A
5 papers
NM_014762.4
p.E206K
c.616G>A
5 papers
NM_014762.4
p.I342I
c.1026T>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."