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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NMUR2

Variant:p.Q381*

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

Selected Variant

1 paper

chr5:152392298 G>A

NM_020167.5

p.Q381*

c.1141C>T

NmU-R2_C_term

exact variant not in gnomAD44 overlapping SVs

Surrounding Variants

1 paper

chr5:152392300 G>A

NM_020167.5

p.P380L

c.1139C>T

NmU-R2_C_term

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=1, hom=0)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

chr5:152392313 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

1 paper

chr5:152392314 G>A

NM_020167.5

p.T375T

c.1125C>T

NmU-R2_C_term

Exome: 0.0% (AC=43, hom=0)Genome: 0.0% (AC=1, hom=0)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

chr5:152392256 C>T

NM_020167.5

p.A395T

c.1183G>A

NmU-R2_C_term

Exome: 99.8% (AC=1459134, hom=728275)Genome: 99.8% (AC=152021, hom=75895)44 overlapping SVs

1 paper

chr5:152392361 C>A

NM_020167.5

p.A360S

c.1078G>T

NmU-R2_C_term

exact variant not in gnomAD44 overlapping SVs

1 paper

chr5:152392376 G>A

NM_020167.5

p.P355S

c.1063C>T

NmU-R2_C_term

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

1 paper

chr5:152392376 G>T

NM_020167.5

p.P355T

c.1063C>A

NmU-R2_C_term

exact variant not in gnomAD44 overlapping SVs

1 paper

chr5:152392441 C>T

NM_020167.5

p.R333H

c.998G>A

NmU-R2_C_term

Exome: 0.0% (AC=65, hom=0)Genome: 0.0% (AC=6, hom=0)44 overlapping SVs

1 paper

chr5:152392468 G>C

NM_020167.5

p.P324R

c.971C>G

7tm_1

Exome: 0.0% (AC=2, hom=0)Genome: n/a44 overlapping SVs

1 paper

chr5:152392475 CA>C

NM_020167.5

p.A321delFs

c.963delA

7tm_1

Exome: 0.0% (AC=99, hom=0)Genome: 0.0% (AC=6, hom=0)44 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."