A0A0A6YWX8 · A0A0A6YWX8_MOUSE
- ProteinNPR2 like, GATOR1 complex subunit
- GeneNprl2
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids163 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389070941 | 69 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000075.7:g.107420401G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.107420401G>A Locations: - p.Val69Met (Ensembl:ENSMUST00000195370) - c.205G>A (Ensembl:ENSMUST00000195370) Source type: large scale study Cross-references: | |||||||
rs3389045887 | 73 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000075.7:g.107420413C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.107420413C>T Locations: - p.His73Tyr (Ensembl:ENSMUST00000195370) - c.217C>T (Ensembl:ENSMUST00000195370) Source type: large scale study Cross-references: | |||||||
rs3547507478 | 91 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000075.7:g.107420467G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.107420467G>A Locations: - p.Ala91Thr (Ensembl:ENSMUST00000195370) - c.271G>A (Ensembl:ENSMUST00000195370) Source type: large scale study Cross-references: | |||||||
rs3389079225 | 101 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000075.7:g.107420497A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.107420497A>T Locations: - p.Ile101Phe (Ensembl:ENSMUST00000195370) - c.301A>T (Ensembl:ENSMUST00000195370) Source type: large scale study Cross-references: | |||||||
rs3389075641 | 101 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000075.7:g.107420499C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.107420499C>G Locations: - p.Ile101Met (Ensembl:ENSMUST00000195370) - c.303C>G (Ensembl:ENSMUST00000195370) Source type: large scale study Cross-references: | |||||||
rs3389016188 | 105 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000075.7:g.107420510T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.107420510T>A Locations: - p.Leu105Gln (Ensembl:ENSMUST00000195370) - c.314T>A (Ensembl:ENSMUST00000195370) Source type: large scale study Cross-references: | |||||||
rs3389073788 | 112 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000075.7:g.107420531T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.107420531T>C Locations: - p.Leu112Pro (Ensembl:ENSMUST00000195370) - c.335T>C (Ensembl:ENSMUST00000195370) Source type: large scale study Cross-references: | |||||||
rs3389072499 | 122 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000075.7:g.107420730G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 9q Genomic location: NC_000075.7:g.107420730G>T Locations: - p.Glu122Ter (Ensembl:ENSMUST00000195370) - c.364G>T (Ensembl:ENSMUST00000195370) Source type: large scale study Cross-references: | |||||||
rs3389050820 | 135 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000075.7:g.107420769C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.107420769C>A Locations: - p.Leu135Met (Ensembl:ENSMUST00000195370) - c.403C>A (Ensembl:ENSMUST00000195370) Source type: large scale study Cross-references: | |||||||
rs3389050740 | 137 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000075.7:g.107420777A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.107420777A>C Locations: - p.Glu137Asp (Ensembl:ENSMUST00000195370) - c.411A>C (Ensembl:ENSMUST00000195370) Source type: large scale study Cross-references: | |||||||
rs3389075665 | 137 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000075.7:g.107420776A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.107420776A>T Locations: - p.Glu137Val (Ensembl:ENSMUST00000195370) - c.410A>T (Ensembl:ENSMUST00000195370) Source type: large scale study Cross-references: | |||||||
rs3389072521 | 145 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000075.7:g.107420800G>C Codon: TGC/TCC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.107420800G>C Locations: - p.Cys145Ser (Ensembl:ENSMUST00000195370) - c.434G>C (Ensembl:ENSMUST00000195370) Source type: large scale study Cross-references: | |||||||
rs3389071144 | 154 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000075.7:g.107421388C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.107421388C>G Locations: - p.Ala154Gly (Ensembl:ENSMUST00000195370) - c.461C>G (Ensembl:ENSMUST00000195370) Source type: large scale study Cross-references: | |||||||
rs223770341 | 154 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000075.7:g.107421387G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.107421387G>A Locations: - p.Ala154Thr (Ensembl:ENSMUST00000195370) - c.460G>A (Ensembl:ENSMUST00000195370) Source type: large scale study Cross-references: |