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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLP1R

GLP1R

236 papers

RefSeq Summary

This gene encodes a 7-transmembrane protein that functions as a receptor for glucagon-like peptide 1 (GLP-1) hormone, which stimulates glucose-induced insulin secretion. This receptor, which functions...

Pfam Domains

HRMaa 59–129UCSCHormone receptor domain

7tm_2aa 141–398UCSC7 transmembrane receptor (Secretin family)

Gene Aliases

HGNC Name

glucagon like peptide 1 receptor

HGNC Alias Symbol

GLP-1R

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 402 variants

33 papers

chr6:39066296 G>A

NM_002062.5

p.G168S

c.502G>A

7tm_2

Exome: 30.0% (AC=432743, hom=71429)Genome: 21.9% (AC=33287, hom=4890)59 overlapping SVs

24 papers

chr6:39065819 G>A

NM_002062.5

p.R131Q

c.392G>A

Exome: 1.5% (AC=22265, hom=1386)Genome: 1.6% (AC=2449, hom=183)58 overlapping SVs

24 papers

chr6:39079018 G>A

NM_002062.5

p.A316T

c.946G>A

7tm_2

Exome: 1.4% (AC=20012, hom=171)Genome: 1.1% (AC=1627, hom=19)58 overlapping SVs

22 papers

chr6:39066240 C>T

NM_002062.5

p.T149M

c.446C>T

7tm_2

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=1, hom=0)59 overlapping SVs

15 papers

chr6:39048860 C>T

NM_002062.5

p.P7L

c.20C>T

Exome: 36.2% (AC=485715, hom=92300)Genome: 27.5% (AC=41860, hom=7298)59 overlapping SVs

15 papers

chr6:39073726 A>C

NM_002062.5

p.L260F

c.780A>C

7tm_2

Exome: 56.3% (AC=823257, hom=232679)Genome: 56.4% (AC=85734, hom=24439)58 overlapping SVs

14 papers

chr6:39073726 A>T

NM_002062.5

p.L260F

c.780A>T

7tm_2

Exome: 0.0% (AC=16, hom=0)Genome: n/a58 overlapping SVs

8 papers

chr6:39056449 G>A

NM_002062.5

p.R44H

c.131G>A

Exome: 0.1% (AC=1899, hom=42)Genome: 0.2% (AC=254, hom=1)58 overlapping SVs

4 papers

chr6:39072932 G>A

NM_002062.5

p.V194I

c.580G>A

7tm_2

Exome: 0.0% (AC=222, hom=1)Genome: 0.0% (AC=43, hom=0)59 overlapping SVs

4 papers

chr6:39073769 G>A

NM_002062.5

p.G275S

c.823G>A

7tm_2

exact variant not in gnomAD58 overlapping SVs

3 papers

chr6:39057522 G>A

NM_002062.5

p.E76K

c.226G>A

HRM

Exome: 0.0% (AC=1, hom=0)Genome: n/a58 overlapping SVs

3 papers

chr6:39072921 G>A

NM_002062.5

p.R190Q

c.569G>A

7tm_2

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=6, hom=0)59 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."