Varaico: Literature-Extracted Genetic Variants

Gene:DHCR24
Variant:p.H185Y

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.H185Y
c.553C>T
Surrounding Variants
1 paper
NM_014762.4
p.L182L
c.544C>T
1 paper
NM_014762.4
p.A189T
c.565G>A
13 papers
NM_014762.4
p.E191K
c.571G>A
1 paper
NM_014762.4
p.G172D
c.515G>A
2 papers
NM_014762.4
p.M169T
c.506T>C
2 papers
NM_014762.4
p.L167S
c.500T>C
1 paper
NM_014762.4
p.P204P
c.612G>A
2 papers
NM_014762.4
p.V155M
c.463G>A
1 paper
NM_014762.4
p.G150_L153del4
c.448_458del12
6 papers
NM_014762.4
p.W151*
c.453G>A
6 papers
NM_014762.4
p.W151*
c.452G>A
1 paper
NM_014762.4
p.Q141*
c.421C>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."