Varaico: Literature-Extracted Genetic Variants

Gene:DHCR24
Variant:p.E228insFs

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.E228insFs
c.682_683insC
Surrounding Variants
2 papers
NM_014762.4
p.A227T
c.679G>A
1 paper
NM_014762.4
p.A226P
c.676G>C
1 paper
NM_014762.4
p.R230C
c.688C>T
1 paper
NM_014762.4
p.G222V
c.665G>T
3 papers
NM_014762.4
p.Y237*
c.711C>G
3 papers
NM_014762.4
p.Y237*
c.711C>A
1 paper
NM_014762.4
p.R241C
c.721C>T
1 paper
NM_014762.4
p.E243delFs
c.729delC
1 paper
NM_014762.4
p.F211S
c.632T>C
1 paper
NM_014762.4
p.L210Q
c.629T>A
1 paper
NM_014762.4
p.R246W
c.736C>T
5 papers
NM_014762.4
p.E206K
c.616G>A
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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."