Varaico: Literature-Extracted Genetic Variants

Gene:DHCR24
Variant:p.W411C

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.W411C
c.1233G>C
Surrounding Variants
1 paper
NM_014762.4
p.W411C
c.1233G>T
1 paper
NM_014762.4
p.P414insFs
c.1241_1242ins5
1 paper
NM_014762.4
p.Y408S
c.1223A>C
1 paper
NM_014762.4
p.F415fs
c.1243_1244fs
1 paper
NM_014762.4
p.S419N
c.1256G>A
1 paper
NM_014762.4
p.Q420*
c.1258C>T
1 paper
NM_014762.4
p.D436N
c.1306G>A
1 paper
NM_014762.4
p.R444H
c.1331G>A
1 paper
NM_014762.4
p.R451W
c.1351A>T
1 paper
NM_014762.4
p.K459fs
c.1375_1376fs
1 paper
NM_014762.4
p.K459delFs
c.1377delC
1 paper
NM_014762.4
p.R462C
c.1384C>T
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