Varaico: Literature-Extracted Genetic Variants

Gene:SC5D

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
1–12 of 44 variants
10 papers
NM_006918.5
p.R29Q
c.86G>A
9 papers
NM_006918.5
p.Y46S
c.137A>C
8 papers
NM_006918.5
p.G211D
c.632G>A
6 papers
NM_006918.5
p.D210E
c.630C>A
6 papers
NM_006918.5
p.D210E
c.630C>G
4 papers
NM_006918.5
p.P160R
c.479C>G
3 papers
NM_006918.5
p.K148E
c.442A>G
3 papers
NM_006918.5
p.F254L
c.760T>C
3 papers
NM_006918.5
p.F254L
c.762C>A
3 papers
NM_006918.5
p.F254L
c.762C>G
2 papers
NM_006918.5
p.M63I
c.189G>A
2 papers
NM_006918.5
p.M63I
c.189G>C
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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."