Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.G387R

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.G387R
c.1159G>C
Surrounding Variants
2 papers
NM_001360.3
p.G387R
c.1159G>A
5 papers
NM_001360.3
p.D386D
c.1158T>C
1 paper
NM_001360.3
p.D386N
c.1156G>A
1 paper
NM_001360.3
p.A385T
c.1153G>A
1 paper
NM_001360.3
p.H390Y
c.1168C>T
1 paper
NM_001360.3
p.Y382H
c.1144T>C
1 paper
NM_001360.3
p.H391delFs
c.1173delG
2 papers
NM_001360.3
p.C380*
c.1140C>A
2 papers
NM_001360.3
p.C380F
c.1139G>T
16 papers
NM_001360.3
p.C380S
c.1139G>C
25 papers
NM_001360.3
p.C380Y
c.1139G>A
16 papers
NM_001360.3
p.C380R
c.1138T>C
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