Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.V326L

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
79 papers
NM_001360.3
p.V326L
c.976G>C
Surrounding Variants
86 papers
NM_001360.3
p.V326L
c.976G>T
1 paper
NM_001360.3
p.V326A
c.977T>C
1 paper
NM_001360.3
p.L325L
c.975G>A
13 papers
NM_001360.3
p.Y324H
c.970T>C
4 papers
NM_001360.3
p.L323L
c.969G>T
1 paper
NM_001360.3
p.L323L
c.969G>A
2 papers
NM_001360.3
p.H328R
c.983A>G
2 papers
NM_001360.3
p.G322fs
c.964_965fs
13 papers
NM_001360.3
p.P329L
c.986C>T
2 papers
NM_001360.3
p.P329P
c.987C>T
4 papers
NM_001360.3
p.G322fs
c.964_965fs
3 papers
NM_001360.3
p.G322R
c.964G>C
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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."