Varaico: Literature-Extracted Genetic Variants

Gene:SC5D
Variant:p.E274D

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.E274D
c.822G>T
Surrounding Variants
1 paper
NM_006918.5
p.K276N
c.828G>C
1 paper
NM_006918.5
p.K276N
c.828G>T
1 paper
NM_006918.5
p.R277R
c.831C>A
1 paper
NM_006918.5
p.P265L
c.794C>T
1 paper
NM_006918.5
p.F260S
c.779T>C
3 papers
NM_006918.5
p.F254L
c.762C>A
3 papers
NM_006918.5
p.F254L
c.762C>G
3 papers
NM_006918.5
p.F254L
c.760T>C
1 paper
NM_006918.5
p.G251S
c.751G>A
1 paper
NM_006918.5
p.L219S
c.656T>C
1 paper
NM_006918.5
p.I218V
c.652A>G
8 papers
NM_006918.5
p.G211D
c.632G>A
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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."