Varaico: Literature-Extracted Genetic Variants

Gene:SCD5
Variant:p.R227H

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
Selected Variant
1 paper
NM_001037582.3
p.R227H
c.680G>A
Surrounding Variants
1 paper
NM_001037582.3
p.N239N
c.717C>T
1 paper
NM_001037582.3
p.W209S
c.626G>C
1 paper
NM_001037582.3
p.P249S
c.745C>T
1 paper
NM_001037582.3
p.Y250C
c.749A>G
1 paper
NM_001037582.3
p.I254N
c.761T>A
5 papers
NM_001037582.3
p.V197L
c.589G>C
1 paper
NM_001037582.3
p.S195P
c.583T>C
1 paper
NM_001037582.3
p.K190Splc
c.570-1G>A
1 paper
NM_001037582.3
p.M317L
c.949A>T
1 paper
NM_001037582.3
p.M317L
c.949A>C
1 paper
NM_001037582.3
p.E319K
c.955G>A
1 paper
NM_001037582.3
p.R321W
c.961C>T
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