Varaico: Literature-Extracted Genetic Variants

Gene:SCD5

SCD5

50 papers

RefSeq Summary

Stearoyl-CoA desaturase (SCD; EC 1.14.99.5) is an integral membrane protein of the endoplasmic reticulum that catalyzes the formation of monounsaturated fatty acids from saturated fatty acids. SCD may...

Pfam Domains

FA_desaturaseaa 72–288UCSCFatty acid desaturase

Gene Aliases

HGNC Name

stearoyl-CoA desaturase 5

HGNC Previous Symbol

SCD4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
5 papers
NM_001037582.3
p.V197L
c.589G>C
3 papers
NM_001037582.3
p.F151C
c.452T>G
2 papers
NM_001037582.3
p.M53R
c.158T>G
1 paper
NM_001037582.3
p.D7A
c.20A>C
1 paper
NM_001037582.3
p.I11N
c.32T>A
1 paper
NM_001037582.3
p.R21H
c.62G>A
1 paper
NM_001037582.3
p.V61M
c.181G>A
1 paper
NM_001037582.3
p.L64P
c.191T>C
1 paper
NM_001037582.3
p.A78P
c.232G>C
1 paper
NM_001037582.3
p.A86S
c.256G>T
1 paper
NM_001037582.3
p.A104G
c.311C>G
1 paper
NM_001037582.3
p.A119T
c.355G>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."