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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLP2R

GLP2R

51 papers

RefSeq Summary

This gene encodes a G protein-coupled receptor that is closely related to the glucagon receptor and binds to glucagon-like peptide-2 (GLP2). Signalling through GLP2 stimulates intestinal growth and in...

Pfam Domains

HRMaa 93–162UCSCHormone receptor domain

7tm_2aa 175–432UCSC7 transmembrane receptor (Secretin family)

Gene Aliases

HGNC Name

glucagon like peptide 2 receptor

HGNC Previous Name

glucagon-like peptide 2 receptor

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 82 variants

4 papers

chr17:9889451 G>A

NM_004246.3

p.D470N

c.1408G>A

Exome: 28.6% (AC=417423, hom=65209)Genome: 20.6% (AC=31402, hom=4271)10 overlapping SVs

3 papers

chr17:9857439 C>T

NM_004246.3

p.R210C

c.628C>T

7tm_2

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=5, hom=0)9 overlapping SVs

2 papers

chr17:9826128 A>T

NM_004246.3

p.H22L

c.65A>T

Exome: 0.2% (AC=2920, hom=84)Genome: 2.0% (AC=2991, hom=82)8 overlapping SVs

2 papers

chr17:9826186 G>C

NM_004246.3

p.R41S

c.123G>C

Exome: 0.2% (AC=2416, hom=3)Genome: 0.1% (AC=151, hom=1)8 overlapping SVs

2 papers

chr17:9826186 G>T

NM_004246.3

p.R41S

c.123G>T

exact variant not in gnomAD8 overlapping SVs

2 papers

chr17:9833888 C>A

NM_004246.3

p.P91T

c.271C>A

Exome: 0.0% (AC=238, hom=0)Genome: 0.0% (AC=22, hom=0)8 overlapping SVs

2 papers

chr17:9833888 C>G

NM_004246.3

p.P91A

c.271C>G

Exome: 0.0% (AC=681, hom=7)Genome: 0.4% (AC=607, hom=3)8 overlapping SVs

2 papers

chr17:9857511 G>A

NM_004246.3

p.V234I

c.700G>A

7tm_2

Exome: 0.5% (AC=7775, hom=61)Genome: 0.5% (AC=776, hom=5)9 overlapping SVs

2 papers

chr17:9857575 A>C

NM_004246.3

p.E255A

c.764A>C

7tm_2

Exome: 0.1% (AC=1190, hom=20)Genome: 0.9% (AC=1333, hom=22)9 overlapping SVs

2 papers

chr17:9860036 C>T

NM_004246.3

p.T287M

c.860C>T

7tm_2

Exome: 0.2% (AC=3390, hom=5)Genome: 0.2% (AC=247, hom=0)9 overlapping SVs

2 papers

chr17:9862064 C>T

NM_004246.3

p.R344*

c.1030C>T

7tm_2

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=1, hom=0)9 overlapping SVs

2 papers

chr17:9889416 G>A

NM_004246.3

p.R458H

c.1373G>A

Exome: 0.0% (AC=565, hom=0)Genome: 0.0% (AC=35, hom=0)10 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."