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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCD5

Variant:p.I11N

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr4:82798506 A>T

NM_001037582.3

p.I11N

c.32T>A

Exome: 0.0% (AC=2, hom=0)Genome: n/a96 overlapping SVs

Surrounding Variants

1 paper

chr4:82798518 T>G

NM_001037582.3

p.D7A

c.20A>C

exact variant not in gnomAD96 overlapping SVs

1 paper

chr4:82798476 C>T

NM_001037582.3

p.R21H

c.62G>A

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=3, hom=0)96 overlapping SVs

2 papers

chr4:82798380 A>C

NM_001037582.3

p.M53R

c.158T>G

Exome: 0.0% (AC=39, hom=0)Genome: 0.0% (AC=1, hom=0)96 overlapping SVs

1 paper

chr4:82798357 C>T

NM_001037582.3

p.V61M

c.181G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a96 overlapping SVs

1 paper

chr4:82798347 A>G

NM_001037582.3

p.L64P

c.191T>C

exact variant not in gnomAD96 overlapping SVs

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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."