Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.Y430insFs

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.Y430insFs
c.1288_1289insTA
Surrounding Variants
2 papers
NM_001360.3
p.Y430*
c.1290C>G
2 papers
NM_001360.3
p.Y430*
c.1290C>A
2 papers
NM_001360.3
p.Y430C
c.1289A>G
1 paper
NM_001360.3
p.Y432H
c.1294T>C
1 paper
NM_001360.3
p.P429L
c.1286C>T
16 papers
NM_001360.3
p.Y432C
c.1295A>G
1 paper
NM_001360.3
p.L428L
c.1282C>T
1 paper
NM_001360.3
p.H426_L427insFs
c.1278_1279insC
1 paper
NM_001360.3
p.I434V
c.1300A>G
1 paper
NM_001360.3
p.H426Q
c.1278C>G
1 paper
NM_001360.3
p.H426Q
c.1278C>A
7 papers
NM_001360.3
p.H426P
c.1277A>C
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