Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.G347S

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
6 papers
NM_001360.3
p.G347S
c.1039G>A
Surrounding Variants
1 paper
NM_001360.3
p.Y349H
c.1045T>C
1 paper
NM_001360.3
p.Y349C
c.1046A>G
4 papers
NM_001360.3
p.G344D
c.1031G>A
7 papers
NM_001360.3
p.G344R
c.1030G>C
1 paper
NM_001360.3
p.L342P
c.1025T>C
58 papers
NM_001360.3
p.R352W
c.1054C>T
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.L341P
c.1022T>C
10 papers
NM_001360.3
p.V353A
c.1058T>C
4 papers
NM_001360.3
p.V353delFs
c.1057delC
2 papers
NM_001360.3
p.V340V
c.1020C>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."