Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.E448Q

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
10 papers
NM_001360.3
p.E448Q
c.1342G>C
Surrounding Variants
40 papers
NM_001360.3
p.E448K
c.1342G>A
5 papers
NM_001360.3
p.D447D
c.1341C>T
34 papers
NM_001360.3
p.R446Q
c.1337G>A
2 papers
NM_001360.3
p.R446W
c.1336C>T
30 papers
NM_001360.3
p.R450L
c.1349G>T
1 paper
NM_001360.3
p.R450delFs
c.1348delG
1 paper
NM_001360.3
p.R450R
c.1350C>T
4 papers
NM_001360.3
p.R450R
c.1350C>G
1 paper
NM_001360.3
p.R450R
c.1350C>A
3 papers
NM_001360.3
p.C451R
c.1351T>C
11 papers
NM_001360.3
p.C444Y
c.1331G>A
2 papers
NM_001360.3
p.A452T
c.1354G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."