Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.N252I

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.N252I
c.755A>T
Surrounding Variants
7 papers
NM_001360.3
p.N252S
c.755A>G
4 papers
NM_001360.3
p.I251M
c.753C>G
3 papers
NM_001360.3
p.I251N
c.752T>A
5 papers
NM_001360.3
p.S254A
c.760T>G
1 paper
NM_001360.3
p.S254P
c.760T>C
1 paper
NM_001360.3
p.L250delFs
c.748delG
4 papers
NM_001360.3
p.S254_F255insFs
c.762_763insT
1 paper
NM_001360.3
p.S254_F255insFs
c.762_763insTA
1 paper
NM_001360.3
p.L250fs
c.748_749fs
9 papers
NM_001360.3
p.F255L
c.763T>C
9 papers
NM_001360.3
p.F255L
c.765C>G
2 papers
NM_001360.3
p.F255insFs
c.763_764insT
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."