Varaico: Literature-Extracted Genetic Variants

Gene:DHCR24
Variant:p.Y50_Y51delFs

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.Y50_Y51delFs
c.150_153del4
Surrounding Variants
1 paper
NM_014762.4
p.Y49D
c.145T>G
1 paper
NM_014762.4
p.L37H
c.110T>A
1 paper
NM_014762.4
p.V35L
c.103G>T
1 paper
NM_014762.4
p.V35L
c.103G>C
1 paper
NM_014762.4
p.L27del1
c.79_81delGAG
2 papers
NM_014762.4
p.K76M
c.227A>T
1 paper
NM_014762.4
p.Q77_V78Splc
c.231+19G>C
1 paper
NM_014762.4
p.L20V
c.58C>G
1 paper
NM_014762.4
p.L13L
c.39C>A
1 paper
NM_014762.4
p.V5G
c.14T>G
1 paper
NM_014762.4
p.P3P
c.9C>T
1 paper
NM_014762.4
p.E2K
c.4G>A
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