Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.L416L

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.L416L
c.1246C>T
Surrounding Variants
1 paper
NM_001360.3
p.Y418S
c.1253A>C
1 paper
NM_001360.3
p.L420M
c.1258C>A
1 paper
NM_001360.3
p.D411A
c.1232A>C
2 papers
NM_001360.3
p.D411N
c.1231G>A
1 paper
NM_001360.3
p.A421V
c.1262C>T
1 paper
NM_001360.3
p.G410D
c.1229G>A
1 paper
NM_001360.3
p.C422G
c.1264T>G
13 papers
NM_001360.3
p.G410R
c.1228G>C
46 papers
NM_001360.3
p.G410S
c.1228G>A
1 paper
NM_001360.3
p.Y418_C422ins1
c.1253_1264dup12
1 paper
NM_001360.3
p.C422Y
c.1265G>A
15 papers
NM_001360.3
p.Y408H
c.1222T>C
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