Varaico: Literature-Extracted Genetic Variants

Gene:DHCR24
Variant:p.Y300F

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
Selected Variant
1 paper
NM_014762.4
p.Y300F
c.899A>T
Surrounding Variants
1 paper
NM_014762.4
p.Y299F
c.896A>T
1 paper
NM_014762.4
p.P302S
c.904C>T
1 paper
NM_014762.4
p.G297S
c.889G>A
11 papers
NM_014762.4
p.N294T
c.881A>C
12 papers
NM_014762.4
p.K306N
c.918G>T
12 papers
NM_014762.4
p.K306N
c.918G>C
1 paper
NM_014762.4
p.G318V
c.953G>T
1 paper
NM_014762.4
p.L319M
c.955C>A
1 paper
NM_014762.4
p.Y321F
c.962A>T
2 papers
NM_014762.4
p.L324W
c.971T>G
1 paper
NM_014762.4
p.H331Y
c.991C>T
1 paper
NM_014762.4
p.Q340_D341Splc
c.1020+7C>T
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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."