Varaico: Literature-Extracted Genetic Variants

Gene:SC5D
Variant:p.Q72*

SC5D

59 papers

RefSeq Summary

This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathost...

Pfam Domains

FA_hydroxylaseaa 123–253UCSCFatty acid hydroxylase

Gene Aliases

HGNC Name

sterol-C5-desaturase

HGNC Previous Symbol

SC5DL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006918.5
p.Q72*
c.214C>T
Surrounding Variants
1 paper
NM_006918.5
p.N71I
c.212A>T
1 paper
NM_006918.5
p.R75Q
c.224G>A
1 paper
NM_006918.5
p.K78K
c.234G>A
1 paper
NM_006918.5
p.P85S
c.253C>T
1 paper
NM_006918.5
p.L97P
c.290T>C
2 papers
NM_006918.5
p.M63I
c.189G>A
2 papers
NM_006918.5
p.M63I
c.189G>C
2 papers
NM_006918.5
p.M63I
c.189G>T
9 papers
NM_006918.5
p.Y46S
c.137A>C
10 papers
NM_006918.5
p.R29Q
c.86G>A
1 paper
NM_006918.5
p.F13fs
c.37_38fs
1 paper
NM_006918.5
p.R6C
c.16C>T
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."