Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.C183Y

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
10 papers
NM_001360.3
p.C183Y
c.548G>A
Surrounding Variants
1 paper
NM_001360.3
p.C183F
c.548G>T
11 papers
NM_001360.3
p.W182C
c.546G>T
12 papers
NM_001360.3
p.W182C
c.546G>C
3 papers
NM_001360.3
p.W182*
c.546G>A
1 paper
NM_001360.3
p.A184T
c.550G>A
10 papers
NM_001360.3
p.W182L
c.545G>T
2 papers
NM_001360.3
p.W182*
c.545G>A
1 paper
NM_001360.3
p.A184delFs
c.552delG
2 papers
NM_001360.3
p.N185K
c.555C>G
2 papers
NM_001360.3
p.N185K
c.555C>A
10 papers
NM_001360.3
p.P179L
c.536C>T
1 paper
NM_001360.3
p.F174_I178Fs
c.522_534delinsGGFs
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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."