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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COPE

Variant:p.L43L

COPE

15 papers

RefSeq Summary

The product of this gene is an epsilon subunit of coatomer protein complex. Coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coat...

Pfam Domains

Coatomer_Eaa 15–168UCSCCoatomer epsilon subunit

Coatomer_Eaa 170–328UCSCCoatomer epsilon subunit

Gene Aliases

HGNC Name

coat protein complex I subunit epsilon

HGNC Alias Symbol

epsilon-COP

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr19:18913044 T>C

NM_007263.4

p.L43L

c.129A>G

Coatomer_E

Exome: 46.1% (AC=671186, hom=158289)Genome: 44.6% (AC=67832, hom=15768)11 overlapping SVs

Surrounding Variants

1 paper

chr19:18911056 C>T

NM_007263.4

p.V69I

c.205G>A

Coatomer_E

exact variant not in gnomAD11 overlapping SVs

1 paper

chr19:18911016 T>A

NM_007263.4

p.Q82L

c.245A>T

Coatomer_E

exact variant not in gnomAD11 overlapping SVs

1 paper

chr19:18910983 T>A

NM_007263.4

p.H93L

c.278A>T

Coatomer_E

Exome: 0.0% (AC=1, hom=0)Genome: n/a11 overlapping SVs

3 papers

chr19:18907090 C>G

NM_007263.4

p.D105H

c.313G>C

Coatomer_E

Exome: 0.2% (AC=2792, hom=6)Genome: 0.1% (AC=170, hom=0)12 overlapping SVs

2 papers

chr19:18907008 T>A

NM_007263.4

p.N132I

c.395A>T

Coatomer_E

exact variant not in gnomAD12 overlapping SVs

1 paper

chr19:18904849 C>T

NM_007263.4

p.K167K

c.501G>A

Coatomer_E

Exome: 0.0% (AC=0, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr19:18904822 G>C

NM_007263.4

p.D176E

c.528C>G

Coatomer_E

exact variant not in gnomAD13 overlapping SVs

1 paper

chr19:18904822 G>T

NM_007263.4

p.D176E

c.528C>A

Coatomer_E

Exome: 0.0% (AC=0, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr19:18903335 G>T

NM_007263.4

p.A223E

c.668C>A

Coatomer_E

exact variant not in gnomAD13 overlapping SVs

1 paper

chr19:18903310 G>A

NM_007263.4

p.R231R

c.693C>T

Coatomer_E

exact variant not in gnomAD13 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."