Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.H336H

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.H336H
c.1008C>T
Surrounding Variants
1 paper
NM_001360.3
p.P335P
c.1005G>T
4 papers
NM_001360.3
p.V338M
c.1012G>A
3 papers
NM_001360.3
p.P335R
c.1004C>G
1 paper
NM_001360.3
p.V340F
c.1018G>T
2 papers
NM_001360.3
p.V340I
c.1018G>A
1 paper
NM_001360.3
p.S333F
c.998C>T
2 papers
NM_001360.3
p.V340V
c.1020C>T
10 papers
NM_001360.3
p.L341P
c.1022T>C
1 paper
NM_001360.3
p.L342P
c.1025T>C
13 papers
NM_001360.3
p.V330M
c.988G>A
2 papers
NM_001360.3
p.P329P
c.987C>T
7 papers
NM_001360.3
p.G344R
c.1030G>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."