Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.M220T

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
1 paper
NM_001360.3
p.M220T
c.659T>C
Surrounding Variants
2 papers
NM_001360.3
p.M220L
c.658A>T
2 papers
NM_001360.3
p.M220L
c.658A>C
4 papers
NM_001360.3
p.Y219D
c.655T>G
1 paper
NM_001360.3
p.Y219H
c.655T>C
7 papers
NM_001360.3
p.Y217*
c.651C>G
8 papers
NM_001360.3
p.Y217*
c.651C>A
1 paper
NM_001360.3
p.Y217delFs
c.650delT
5 papers
NM_001360.3
p.E224K
c.670G>A
4 papers
NM_001360.3
p.P227S
c.679C>T
1 paper
NM_001360.3
p.P227T
c.679C>A
10 papers
NM_001360.3
p.R228W
c.682C>T
7 papers
NM_001360.3
p.R228insFs
c.683_684insC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."