Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.R352W

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
58 papers
NM_001360.3
p.R352W
c.1054C>T
Surrounding Variants
3 papers
NM_001360.3
p.R352L
c.1055G>T
30 papers
NM_001360.3
p.R352Q
c.1055G>A
10 papers
NM_001360.3
p.V353A
c.1058T>C
4 papers
NM_001360.3
p.V353delFs
c.1057delC
1 paper
NM_001360.3
p.A354T
c.1060G>A
1 paper
NM_001360.3
p.Y349C
c.1046A>G
1 paper
NM_001360.3
p.Y349H
c.1045T>C
5 papers
NM_001360.3
p.N355D
c.1063A>G
2 papers
NM_001360.3
p.H356delFs
c.1066delG
6 papers
NM_001360.3
p.G347S
c.1039G>A
2 papers
NM_001360.3
p.Q357*
c.1069C>T
1 paper
NM_001360.3
p.H356delFs
c.1066_1067delTG
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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."