Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.R228insFs

DHCR7

556 papers

RefSeq Summary

This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and it...

Pfam Domains

ERG4_ERG24aa 40–475UCSCErgosterol biosynthesis ERG4/ERG24 family

Gene Aliases

HGNC Name

7-dehydrocholesterol reductase

HGNC Previous Symbol

SLOS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_001360.3
p.R228insFs
c.683_684insC
Surrounding Variants
1 paper
NM_001360.3
p.R228insFs
c.682_683insCA
2 papers
NM_001360.3
p.R228Q
c.683G>A
1 paper
NM_001360.3
p.R228fs
c.682_683fs
10 papers
NM_001360.3
p.R228W
c.682C>T
4 papers
NM_001360.3
p.P227S
c.679C>T
1 paper
NM_001360.3
p.P227T
c.679C>A
1 paper
NM_001360.3
p.G230R
c.688G>C
1 paper
NM_001360.3
p.G230R
c.688G>A
5 papers
NM_001360.3
p.E224K
c.670G>A
1 paper
NM_001360.3
p.F233insFs
c.698_699ins4
4 papers
NM_001360.3
p.D234Y
c.700G>T
7 papers
NM_001360.3
p.F235S
c.704T>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."