Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7

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
1–12 of 522 variants
184 papers
NM_001360.3
p.Q321_G322Splc
c.964-1G>C
145 papers
NM_001360.3
p.W151*
c.452G>A
138 papers
NM_001360.3
p.W151*
c.453G>A
121 papers
NM_001360.3
p.T93M
c.278C>T
86 papers
NM_001360.3
p.V326L
c.976G>T
79 papers
NM_001360.3
p.V326L
c.976G>C
65 papers
NM_001360.3
p.R404C
c.1210C>T
58 papers
NM_001360.3
p.R352W
c.1054C>T
46 papers
NM_001360.3
p.G410S
c.1228G>A
43 papers
NM_001360.3
p.R242C
c.724C>T
40 papers
NM_001360.3
p.E448K
c.1342G>A
34 papers
NM_001360.3
p.R446Q
c.1337G>A
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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."