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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TM2D2

Variant:p.P42L

TM2D2

10 papers

RefSeq Summary

The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similar...

Pfam Domains

TM2aa 146–195UCSCTM2 domain

Gene Aliases

HGNC Name

TM2 domain containing 2

HGNC Alias Symbol

BLP1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr8:38996315 G>A

NM_078473.3

p.P42L

c.125C>T

Exome: 0.0% (AC=9, hom=0)Genome: n/a21 overlapping SVs

Surrounding Variants

1 paper

chr8:38996247 C>T

NM_078473.3

p.D65N

c.193G>A

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)21 overlapping SVs

1 paper

chr8:38996420 G>A

NM_078473.3

p.P7L

c.20C>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a21 overlapping SVs

1 paper

chr8:38995431 T>C

NM_078473.3

p.L76Splc

c.228-26A>G

Exome: 0.1% (AC=1418, hom=10)Genome: 0.1% (AC=190, hom=1)21 overlapping SVs

1 paper

chr8:38993627 T>C

NM_078473.3

p.T117A

c.349A>G

Exome: n/aGenome: 0.0% (AC=1, hom=0)21 overlapping SVs

1 paper

chr8:38991543 T>C

NM_078473.3

p.Y145C

c.434A>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr8:38991480 T>C

NM_078473.3

p.D166G

c.497A>G

TM2

exact variant not in gnomAD19 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."