Varaico: Literature-Extracted Genetic Variants

Gene:SC5D
Variant:p.T130A

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.T130A
c.388A>G
Surrounding Variants
1 paper
NM_006918.5
p.F126L
c.378C>A
1 paper
NM_006918.5
p.F126L
c.378C>G
1 paper
NM_006918.5
p.F126L
c.376T>C
1 paper
NM_006918.5
p.G140S
c.418G>A
1 paper
NM_006918.5
p.E118V
c.353A>T
1 paper
NM_006918.5
p.V146A
c.437T>C
3 papers
NM_006918.5
p.K148E
c.442A>G
4 papers
NM_006918.5
p.P160R
c.479C>G
1 paper
NM_006918.5
p.F174L
c.520T>C
1 paper
NM_006918.5
p.F174L
c.522T>A
1 paper
NM_006918.5
p.F174L
c.522T>G
1 paper
NM_006918.5
p.Q176*
c.526C>T
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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."