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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMED1

Variant:p.Q61_V62Splc

TMED1

14 papers

RefSeq Summary

This gene belongs to the TMED (transmembrane emp24 domain-containing) protein family, which is involved in the vesicular trafficking of proteins. The protein encoded by this gene was identified by its...

Pfam Domains

EMP24_GP25Laa 33–220UCSCemp24/gp25L/p24 family/GOLD

Gene Aliases

HGNC Name

transmembrane p24 trafficking protein 1

HGNC Alias Symbols

ST2L; MGC1270; IL1RL1LG; Il1rl1l; p24gamma1; p24g1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr19:10836008 C>T

NM_006858.4

p.Q61_V62Splc

c.183+1G>A

EMP24_GP25L

Exome: 0.0% (AC=50, hom=0)Genome: 0.0% (AC=4, hom=0)14 overlapping SVs

Surrounding Variants

1 paper

chr19:10836106 A>T

NM_006858.4

p.I29N

c.86T>A

exact variant not in gnomAD14 overlapping SVs

1 paper

chr19:10836161 C>T

NM_006858.4

p.A11T

c.31G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a14 overlapping SVs

1 paper

chr19:10835301 C>A

NM_006858.4

p.G79V

c.236G>T

EMP24_GP25L

Exome: 0.0% (AC=62, hom=1)Genome: 0.0% (AC=6, hom=0)13 overlapping SVs

1 paper

chr19:10835095 C>A

NM_006858.4

p.D102Y

c.304G>T

EMP24_GP25L

Exome: n/aGenome: 0.0% (AC=2, hom=0)13 overlapping SVs

1 paper

chr19:10835074 T>C

NM_006858.4

p.N109D

c.325A>G

EMP24_GP25L

Exome: 0.0% (AC=26, hom=0)Genome: 0.0% (AC=1, hom=0)13 overlapping SVs

1 paper

chr19:10835008 C>T

NM_006858.4

p.D131N

c.391G>A

EMP24_GP25L

exact variant not in gnomAD13 overlapping SVs

1 paper

chr19:10833200 G>A

NM_006858.4

p.T160I

c.479C>T

EMP24_GP25L

exact variant not in gnomAD13 overlapping SVs

1 paper

chr19:10833132 G>A

NM_006858.4

p.R183C

c.547C>T

EMP24_GP25L

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=2, hom=0)13 overlapping SVs

1 paper

chr19:10833086 G>A

NM_006858.4

p.A198V

c.593C>T

EMP24_GP25L

Exome: 0.0% (AC=399, hom=6)Genome: 0.0% (AC=59, hom=0)13 overlapping SVs

1 paper

chr19:10833038 G>A

NM_006858.4

p.T214M

c.641C>T

EMP24_GP25L

Exome: 0.0% (AC=33, hom=0)Genome: 0.0% (AC=10, hom=0)13 overlapping SVs

1 paper

chr19:10833012 G>A

NM_006858.4

p.R223C

c.667C>T

Exome: 0.0% (AC=432, hom=0)Genome: 0.0% (AC=40, hom=0)13 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."