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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GPR45

GPR45

39 papers

RefSeq Summary

This intronless gene encodes a member of the G protein-coupled receptor (GPCR) family. Members of this protein family contain seven putative transmembrane domains and may mediate signaling processes t...

Pfam Domains

7tm_1aa 51–324UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

G protein-coupled receptor 45

HGNC Alias Symbols

PSP24; PSP24A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 38 variants

3 papers

chr2:105242792 C>T

NM_007227.3

p.L312F

c.934C>T

7tm_1

Exome: 13.8% (AC=201728, hom=14660)Genome: 11.4% (AC=17393, hom=1226)146 overlapping SVs

2 papers

chr2:105241862 G>A

NM_007227.3

p.A2T

c.4G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a146 overlapping SVs

2 papers

chr2:105242396 C>A

NM_007227.3

p.P180T

c.538C>A

7tm_1

Exome: n/aGenome: 0.0% (AC=1, hom=0)146 overlapping SVs

1 paper

chr2:105241875 C>T

NM_007227.3

p.T6M

c.17C>T

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=3, hom=0)146 overlapping SVs

1 paper

chr2:105241876 G>A

NM_007227.3

p.T6T

c.18G>A

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=1, hom=0)146 overlapping SVs

1 paper

chr2:105241878 C>G

NM_007227.3

p.S7C

c.20C>G

exact variant not in gnomAD146 overlapping SVs

1 paper

chr2:105241994 G>A

NM_007227.3

p.V46M

c.136G>A

Exome: 0.0% (AC=10, hom=0)Genome: n/a146 overlapping SVs

1 paper

chr2:105242038 C>A

NM_007227.3

p.Y60*

c.180C>A

7tm_1

exact variant not in gnomAD146 overlapping SVs

1 paper

chr2:105242038 C>G

NM_007227.3

p.Y60*

c.180C>G

7tm_1

Exome: 0.0% (AC=1, hom=0)Genome: n/a146 overlapping SVs

1 paper

chr2:105242055 G>A

NM_007227.3

p.R66H

c.197G>A

7tm_1

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=2, hom=0)146 overlapping SVs

1 paper

chr2:105242150 G>A

NM_007227.3

p.V98M

c.292G>A

7tm_1

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=2, hom=0)146 overlapping SVs

1 paper

chr2:105242180 C>T

NM_007227.3

p.R108C

c.322C>T

7tm_1

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)146 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."