Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.L40delFs

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.L40delFs
c.119delA
Surrounding Variants
1 paper
NM_001360.3
p.A41V
c.122C>T
1 paper
NM_001360.3
p.L40L
c.118C>T
1 paper
NM_001360.3
p.V43F
c.127G>T
3 papers
NM_001360.3
p.V43I
c.127G>A
8 papers
NM_001360.3
p.W37*
c.111G>A
6 papers
NM_001360.3
p.W37*
c.110G>A
2 papers
NM_001360.3
p.I44T
c.131T>C
1 paper
NM_001360.3
p.L46fs
c.136_137fs
4 papers
NM_001360.3
p.L47L
c.139C>T
2 papers
NM_001360.3
p.W33*
c.99G>A
1 paper
NM_001360.3
p.W33*
c.98G>A
5 papers
NM_001360.3
p.W33Splc
c.99-4G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."