Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.G410S

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
46 papers
NM_001360.3
p.G410S
c.1228G>A
Surrounding Variants
13 papers
NM_001360.3
p.G410R
c.1228G>C
1 paper
NM_001360.3
p.G410D
c.1229G>A
2 papers
NM_001360.3
p.D411N
c.1231G>A
1 paper
NM_001360.3
p.D411A
c.1232A>C
15 papers
NM_001360.3
p.Y408H
c.1222T>C
2 papers
NM_001360.3
p.N407S
c.1220A>G
12 papers
NM_001360.3
p.N407Y
c.1219A>T
1 paper
NM_001360.3
p.H405Q
c.1215C>G
1 paper
NM_001360.3
p.H405Q
c.1215C>A
1 paper
NM_001360.3
p.H405delFs
c.1214delT
6 papers
NM_001360.3
p.H405Y
c.1213C>T
1 paper
NM_001360.3
p.H405fs
c.1213_1214fs
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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."