Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.M270V

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.M270V
c.808A>G
Surrounding Variants
1 paper
NM_001360.3
p.V273I
c.817G>A
8 papers
NM_001360.3
p.V273G
c.818T>G
1 paper
NM_001360.3
p.V273A
c.818T>C
7 papers
NM_001360.3
p.N274K
c.822C>G
7 papers
NM_001360.3
p.N274K
c.822C>A
1 paper
NM_001360.3
p.V275I
c.823G>A
1 paper
NM_001360.3
p.S264N
c.791G>A
1 paper
NM_001360.3
p.N274_V275del0
c.820_825del6
1 paper
NM_001360.3
p.S264G
c.790A>G
1 paper
NM_001360.3
p.E261K
c.781G>A
1 paper
NM_001360.3
p.R260Q
c.779G>A
2 papers
NM_001360.3
p.R260G
c.778C>G
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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."