Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.M436I

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.M436I
c.1308G>C
Surrounding Variants
1 paper
NM_001360.3
p.M436I
c.1308G>T
2 papers
NM_001360.3
p.M436I
c.1308G>A
1 paper
NM_001360.3
p.I434V
c.1300A>G
16 papers
NM_001360.3
p.Y432C
c.1295A>G
1 paper
NM_001360.3
p.Y432H
c.1294T>C
1 paper
NM_001360.3
p.H442R
c.1325A>G
2 papers
NM_001360.3
p.Y430*
c.1290C>G
1 paper
NM_001360.3
p.Y430insFs
c.1288_1289insTA
2 papers
NM_001360.3
p.Y430*
c.1290C>A
15 papers
NM_001360.3
p.R443C
c.1327C>T
2 papers
NM_001360.3
p.Y430C
c.1289A>G
15 papers
NM_001360.3
p.R443H
c.1328G>A
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