Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.G138V

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.G138V
c.413G>T
Surrounding Variants
2 papers
NM_001360.3
p.G138Splc
c.413-2A>G
2 papers
NM_001360.3
p.V140M
c.418G>A
1 paper
NM_001360.3
p.V140V
c.420G>A
2 papers
NM_001360.3
p.Y143*
c.429T>G
1 paper
NM_001360.3
p.Y143*
c.429T>A
6 papers
NM_001360.3
p.I145L
c.433A>C
1 paper
NM_001360.3
p.I145T
c.434T>C
1 paper
NM_001360.3
p.N146fs
c.436_437fs
5 papers
NM_001360.3
p.N146K
c.438T>G
8 papers
NM_001360.3
p.N146N
c.438T>C
5 papers
NM_001360.3
p.N146K
c.438T>A
2 papers
NM_001360.3
p.G147S
c.439G>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."