Varaico: Literature-Extracted Genetic Variants

Gene:DHCR24
Variant:p.I342I

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
5 papers
NM_014762.4
p.I342I
c.1026T>C
Surrounding Variants
1 paper
NM_014762.4
p.P349R
c.1046C>G
1 paper
NM_014762.4
p.L354F
c.1060C>T
1 paper
NM_014762.4
p.G371D
c.1112G>A
1 paper
NM_014762.4
p.E379*
c.1135G>T
1 paper
NM_014762.4
p.Q380P
c.1139A>C
1 paper
NM_014762.4
p.V389M
c.1165G>A
4 papers
NM_014762.4
p.Q402*
c.1204C>T
1 paper
NM_014762.4
p.D404N
c.1210G>A
5 papers
NM_014762.4
p.H406_V407Splc
c.1218+1G>A
1 paper
NM_014762.4
p.Y408S
c.1223A>C
1 paper
NM_014762.4
p.W411C
c.1233G>T
1 paper
NM_014762.4
p.W411C
c.1233G>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."