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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:F2RL1

Variant:p.A6V

F2RL1

97 papers

RefSeq Summary

This gene encodes a member of the G-protein coupled receptor 1 family of proteins. The encoded cell surface receptor is activated through proteolytic cleavage of its extracellular amino terminus, resu...

Pfam Domains

7tm_1aa 92–344UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

F2R like trypsin receptor 1

HGNC Alias Symbol

PAR2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr5:76819199 C>T

NM_005242.6

p.A6V

c.17C>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a84 overlapping SVs

Surrounding Variants

1 paper

chr5:76819186 C>T

NM_005242.6

p.R2W

c.4C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a84 overlapping SVs

1 paper

chr5:76819217 C>CCGGAGT

NM_005242.6

p.A12_A13ins2

c.36_37ins6

exact variant not in gnomAD84 overlapping SVs

1 paper

chr5:76819244 C>T

NM_005242.6

p.S21F

c.62C>T

Exome: 2.1% (AC=30907, hom=432)Genome: 1.5% (AC=2279, hom=25)84 overlapping SVs

1 paper

chr5:76819265 G>A

NM_005242.6

p.G28Splc

c.82+1G>A

Exome: 0.0% (AC=61, hom=0)Genome: 0.0% (AC=5, hom=0)84 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."