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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NMUR2

NMUR2

58 papers

RefSeq Summary

This gene encodes a protein from the G-protein coupled receptor 1 family. This protein is a receptor for neuromedin U, which is a neuropeptide that is widely distributed in the gut and central nervous...

Pfam Domains

7tm_1aa 62–327UCSC7 transmembrane receptor (rhodopsin family)

NmU-R2_C_termaa 331–397UCSCNeuromedin-U receptor 2, C-terminal

Gene Aliases

HGNC Name

neuromedin U receptor 2

HGNC Previous Symbol

NMU2R

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 66 variants

3 papers

chr5:152404497 A>T

NM_020167.5

p.V206D

c.617T>A

7tm_1

Exome: 0.4% (AC=5283, hom=51)Genome: 0.5% (AC=708, hom=8)46 overlapping SVs

3 papers

chr5:152395503 C>G

NM_020167.5

p.S298T

c.893G>C

7tm_1

Exome: 18.3% (AC=267914, hom=26533)Genome: 14.5% (AC=21963, hom=2080)45 overlapping SVs

2 papers

chr5:152404645 G>A

NM_020167.5

p.Q157*

c.469C>T

7tm_1

Exome: 0.0% (AC=552, hom=3)Genome: 0.1% (AC=107, hom=1)46 overlapping SVs

2 papers

chr5:152395554 C>A

NM_020167.5

p.W281L

c.842G>T

7tm_1

exact variant not in gnomAD45 overlapping SVs

2 papers

chr5:152392496 A>G

NM_020167.5

p.F315L

c.943T>C

7tm_1

exact variant not in gnomAD44 overlapping SVs

2 papers

chr5:152392494 G>C

NM_020167.5

p.F315L

c.945C>G

7tm_1

Exome: 0.0% (AC=1, hom=0)Genome: n/a44 overlapping SVs

2 papers

chr5:152392494 G>T

NM_020167.5

p.F315L

c.945C>A

7tm_1

Exome: 18.3% (AC=266695, hom=26478)Genome: 14.5% (AC=22031, hom=2087)44 overlapping SVs

2 papers

chr5:152392313 C>T

NM_020167.5

p.E376K

c.1126G>A

NmU-R2_C_term

Exome: 2.1% (AC=31120, hom=403)Genome: 1.5% (AC=2325, hom=23)44 overlapping SVs

2 papers

chr5:152392291 G>A

NM_020167.5

p.P383L

c.1148C>T

NmU-R2_C_term

Exome: 18.3% (AC=268085, hom=26555)Genome: 14.5% (AC=22035, hom=2084)44 overlapping SVs

2 papers

chr5:152392277 T>C

NM_020167.5

p.M388V

c.1162A>G

NmU-R2_C_term

Exome: 18.3% (AC=268060, hom=26554)Genome: 14.5% (AC=22023, hom=2080)44 overlapping SVs

1 paper

chr5:152405031 C>A

NM_020167.5

p.S28I

c.83G>T

Exome: 0.2% (AC=2885, hom=17)Genome: 0.1% (AC=198, hom=1)46 overlapping SVs

1 paper

chr5:152404973 G>A

NM_020167.5

p.P47P

c.141C>T

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=1, hom=0)46 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."