Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.I370_R373del4

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.I370_R373del4
c.1108_1118del12
Surrounding Variants
2 papers
NM_001360.3
p.D359_K374del16
c.1075_1121del48
1 paper
NM_001360.3
p.K376fs
c.1126_1127fs
1 paper
NM_001360.3
p.K376R
c.1127A>G
3 papers
NM_001360.3
p.K376delFs
c.1127delT
2 papers
NM_001360.3
p.V377I
c.1129G>A
1 paper
NM_001360.3
p.W371*
c.1113G>A
1 paper
NM_001360.3
p.W371*
c.1112G>A
1 paper
NM_001360.3
p.E379K
c.1135G>A
16 papers
NM_001360.3
p.C380R
c.1138T>C
15 papers
NM_001360.3
p.C380S
c.1138T>A
2 papers
NM_001360.3
p.C380F
c.1139G>T
16 papers
NM_001360.3
p.C380S
c.1139G>C
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