Varaico: Literature-Extracted Genetic Variants

Gene:DHCR24
Variant:p.R103C

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
7 papers
NM_014762.4
p.R103C
c.307C>T
Surrounding Variants
1 paper
NM_014762.4
p.L102R
c.305T>G
1 paper
NM_014762.4
p.T110A
c.328A>G
7 papers
NM_014762.4
p.R94H
c.281G>A
2 papers
NM_014762.4
p.T92M
c.275C>T
1 paper
NM_014762.4
p.C91Y
c.272G>A
1 paper
NM_014762.4
p.M90I
c.270G>T
1 paper
NM_014762.4
p.M90I
c.270G>C
1 paper
NM_014762.4
p.M90I
c.270G>A
1 paper
NM_014762.4
p.D120N
c.358G>A
1 paper
NM_014762.4
p.R79W
c.235C>T
1 paper
NM_014762.4
p.Q129_I130Splc
c.387+4A>T
1 paper
NM_014762.4
p.Q77_V78Splc
c.231+253G>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."