Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.T93M

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
121 papers
NM_001360.3
p.T93M
c.278C>T
Surrounding Variants
1 paper
NM_001360.3
p.R94W
c.280A>T
4 papers
NM_001360.3
p.K95K
c.285A>G
1 paper
NM_001360.3
p.A96T
c.286G>A
3 papers
NM_001360.3
p.A97T
c.289G>A
1 paper
NM_001360.3
p.T89S
c.266C>G
1 paper
NM_001360.3
p.T89S
c.265A>T
20 papers
NM_001360.3
p.Q98*
c.292C>T
19 papers
NM_001360.3
p.L99P
c.296T>C
1 paper
NM_001360.3
p.S83L
c.248C>T
1 paper
NM_001360.3
p.T105I
c.314C>T
1 paper
NM_001360.3
p.R81W
c.241C>T
1 paper
NM_001360.3
p.V104_F106Fs
c.312_317delinsAGFs
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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."