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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCD5

Variant:p.K190E

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

chr4:82680708 T>C

NM_001037582.3

p.K190E

c.568A>G

FA_desaturase

Exome: 0.0% (AC=502, hom=1)Genome: 0.0% (AC=30, hom=1)95 overlapping SVs

Surrounding Variants

1 paper

chr4:82680750 C>T

NM_001037582.3

p.V176I

c.526G>A

FA_desaturase

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=5, hom=0)95 overlapping SVs

1 paper

chr4:82680756 G>T

NM_001037582.3

p.L174I

c.520C>A

FA_desaturase

exact variant not in gnomAD95 overlapping SVs

1 paper

chr4:82680777 C>G

NM_001037582.3

p.V167L

c.499G>C

FA_desaturase

Exome: 0.0% (AC=1, hom=0)Genome: n/a95 overlapping SVs

1 paper

chr4:82680802 C>T

NM_001037582.3

p.W158*

c.474G>A

FA_desaturase

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=1, hom=0)95 overlapping SVs

1 paper

chr4:82680803 C>T

NM_001037582.3

p.W158*

c.473G>A

FA_desaturase

exact variant not in gnomAD95 overlapping SVs

3 papers

chr4:82680824 A>C

NM_001037582.3

p.F151C

c.452T>G

FA_desaturase

Exome: 0.0% (AC=390, hom=1)Genome: 0.0% (AC=54, hom=0)95 overlapping SVs

1 paper

chr4:82680900 C>T

NM_001037582.3

p.E126K

c.376G>A

FA_desaturase

Exome: 0.0% (AC=22, hom=0)Genome: n/a95 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."