Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.T154R

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
15 papers
NM_001360.3
p.T154R
c.461C>G
Surrounding Variants
22 papers
NM_001360.3
p.T154M
c.461C>T
1 paper
NM_001360.3
p.L152F
c.454C>T
1 paper
NM_001360.3
p.A150_W151del2
c.448_452del6
1 paper
NM_001360.3
p.W151C
c.453G>T
1 paper
NM_001360.3
p.W151C
c.453G>C
138 papers
NM_001360.3
p.W151*
c.453G>A
1 paper
NM_001360.3
p.L157V
c.469C>G
28 papers
NM_001360.3
p.L157P
c.470T>C
1 paper
NM_001360.3
p.W151S
c.452G>C
145 papers
NM_001360.3
p.W151*
c.452G>A
4 papers
NM_001360.3
p.W158C
c.474G>T
4 papers
NM_001360.3
p.W158C
c.474G>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."