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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PILRA

Variant:p.S83G

PILRA

33 papers

RefSeq Summary

Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the regulation of several...

Pfam Domains

V-setaa 36–150UCSCImmunoglobulin V-set domain

Gene Aliases

HGNC Name

paired immunoglobin like type 2 receptor alpha

HGNC Alias Symbol

FDF03

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

4 papers

chr7:100374226 A>G

NM_013439.3

p.S83G

c.247A>G

V-set

Exome: 0.3% (AC=4686, hom=21)Genome: 1.8% (AC=2692, hom=62)105 overlapping SVs

Surrounding Variants

6 papers

chr7:100374211 A>G

NM_013439.3

p.R78G

c.232A>G

V-set

Exome: 67.7% (AC=989362, hom=339174)Genome: 71.3% (AC=108312, hom=39721)105 overlapping SVs

2 papers

chr7:100374295 A>G

NM_013439.3

p.K106E

c.316A>G

V-set

Exome: 0.0% (AC=435, hom=0)Genome: 0.0% (AC=29, hom=0)104 overlapping SVs

3 papers

chr7:100374112 A>G

NM_013439.3

p.M45V

c.133A>G

V-set

Exome: 0.3% (AC=4573, hom=16)Genome: 0.2% (AC=327, hom=1)104 overlapping SVs

1 paper

chr7:100374400 T>G

NM_013439.3

p.S141A

c.421T>G

V-set

exact variant not in gnomAD105 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."