Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.D386_S397delFs

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.D386_S397delFs
c.1158_1189del32
Surrounding Variants
18 papers
NM_001360.3
p.S397L
c.1190C>T
1 paper
NM_001360.3
p.V396E
c.1187T>A
1 paper
NM_001360.3
p.L395L
c.1183C>T
1 paper
NM_001360.3
p.W400L
c.1199G>T
1 paper
NM_001360.3
p.G401D
c.1202G>A
1 paper
NM_001360.3
p.V402M
c.1204G>A
1 paper
NM_001360.3
p.H391delFs
c.1173delG
65 papers
NM_001360.3
p.R404C
c.1210C>T
11 papers
NM_001360.3
p.R404S
c.1210C>A
2 papers
NM_001360.3
p.R404H
c.1211G>A
1 paper
NM_001360.3
p.H390Y
c.1168C>T
6 papers
NM_001360.3
p.H405Y
c.1213C>T
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