Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.R242C

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
43 papers
NM_001360.3
p.R242C
c.724C>T
Surrounding Variants
25 papers
NM_001360.3
p.R242H
c.725G>A
1 paper
NM_001360.3
p.N240fs
c.718_719fs
11 papers
NM_001360.3
p.P243R
c.728C>G
2 papers
NM_001360.3
p.N240S
c.719A>G
17 papers
NM_001360.3
p.G244R
c.730G>C
23 papers
NM_001360.3
p.G244R
c.730G>A
1 paper
NM_001360.3
p.N240H
c.718A>C
1 paper
NM_001360.3
p.F239L
c.717C>G
1 paper
NM_001360.3
p.F239L
c.717C>A
1 paper
NM_001360.3
p.F239L
c.715T>C
1 paper
NM_001360.3
p.I245T
c.734T>C
1 paper
NM_001360.3
p.F238Y
c.713T>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."