Varaico: Literature-Extracted Genetic Variants

Gene:DHCR24
Variant:p.P504P

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.P504P
c.1512C>T
Surrounding Variants
1 paper
NM_014762.4
p.A502T
c.1504G>A
1 paper
NM_014762.4
p.Y507F
c.1520A>T
1 paper
NM_014762.4
p.D508Y
c.1522G>T
1 paper
NM_014762.4
p.D508N
c.1522G>A
1 paper
NM_014762.4
p.C511F
c.1532G>T
1 paper
NM_014762.4
p.G498C
c.1492G>T
1 paper
NM_014762.4
p.C511Y
c.1532G>A
2 papers
NM_014762.4
p.R494*
c.1480C>T
1 paper
NM_014762.4
p.K492R
c.1475A>G
6 papers
NM_014762.4
p.E480K
c.1438G>A
1 paper
NM_014762.4
p.D473N
c.1417G>A
1 paper
NM_014762.4
p.A472A
c.1416C>T
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