Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.R363S

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
1 paper
NM_001360.3
p.R363S
c.1087C>A
Surrounding Variants
9 papers
NM_001360.3
p.R363C
c.1087C>T
2 papers
NM_001360.3
p.R363H
c.1088G>A
3 papers
NM_001360.3
p.R362H
c.1085G>A
11 papers
NM_001360.3
p.R362C
c.1084C>T
1 paper
NM_001360.3
p.R362S
c.1084C>A
3 papers
NM_001360.3
p.T364M
c.1091C>T
3 papers
NM_001360.3
p.F361L
c.1083C>G
3 papers
NM_001360.3
p.F361L
c.1083C>A
3 papers
NM_001360.3
p.F361L
c.1081T>C
1 paper
NM_001360.3
p.L360R
c.1079T>G
7 papers
NM_001360.3
p.L360P
c.1079T>C
6 papers
NM_001360.3
p.G366V
c.1097G>T
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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."