Q9ERE9 · JIP2_MOUSE
- ProteinC-Jun-amino-terminal kinase-interacting protein 2
- GeneMapk8ip2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids830 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389351750 | 5 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000081.7:g.89338436G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89338436G>A Locations: - p.Ala5Thr (Ensembl:ENSMUST00000023291) - c.13G>A (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389389240 | 9 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000081.7:g.89338448T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89338448T>A Locations: - p.Ser9Thr (Ensembl:ENSMUST00000023291) - c.25T>A (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389376510 | 24 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.89339392C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89339392C>A Locations: - p.Pro24His (Ensembl:ENSMUST00000023291) - c.71C>A (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389376477 | 25 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000081.7:g.89339396G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89339396G>C Locations: - p.Gln25His (Ensembl:ENSMUST00000023291) - c.75G>C (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389376710 | 36 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.89339427G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89339427G>A Locations: - p.Asp36Asn (Ensembl:ENSMUST00000023291) - c.106G>A (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389380237 | 47 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000081.7:g.89339460G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89339460G>A Locations: - p.Gly47Ser (Ensembl:ENSMUST00000023291) - c.139G>A (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389373070 | 51 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000081.7:g.89339474C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89339474C>G Locations: - p.Asp51Glu (Ensembl:ENSMUST00000023291) - c.153C>G (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs247878063 | 91 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000081.7:g.89340829C>A, NC_000081.7:g.89340829C>G Codon: GAC/GAA Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89340829C>A, NC_000081.7:g.89340829C>G Locations: - p.Asp91Glu (Ensembl:ENSMUST00000023291) - c.273C>A (Ensembl:ENSMUST00000023291) - c.273C>G (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs864262100 | 92 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000081.7:g.89340832T>G, NC_000081.7:g.89340832T>A Codon: GAT/GAG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89340832T>G, NC_000081.7:g.89340832T>A Locations: - p.Asp92Glu (Ensembl:ENSMUST00000023291) - c.276T>G (Ensembl:ENSMUST00000023291) - c.276T>A (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389389345 | 97 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000081.7:g.89340845G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89340845G>A Locations: - p.Glu97Lys (Ensembl:ENSMUST00000023291) - c.289G>A (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3552003334 | 98 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.37) Somatic: No Accession: NC_000081.7:g.89340850G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89340850G>T Locations: - p.Glu98Asp (Ensembl:ENSMUST00000023291) - c.294G>T (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs229397872 | 108 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_000081.7:g.89340879A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89340879A>G Locations: - p.Gln108Arg (Ensembl:ENSMUST00000023291) - c.323A>G (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389344886 | 113 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000081.7:g.89340893G>C Codon: GGA/CGA Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89340893G>C Locations: - p.Gly113Arg (Ensembl:ENSMUST00000023291) - c.337G>C (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389380281 | 120 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000081.7:g.89340914C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89340914C>T Locations: - p.Leu120Phe (Ensembl:ENSMUST00000023291) - c.358C>T (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs251913241 | 134 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.58) Somatic: No Accession: NC_000081.7:g.89340956T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89340956T>C Locations: - p.Ser134Pro (Ensembl:ENSMUST00000023291) - c.400T>C (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs212438668 | 136 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000081.7:g.89340963A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89340963A>G Locations: - p.Lys136Arg (Ensembl:ENSMUST00000023291) - c.407A>G (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389381232 | 159 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000081.7:g.89341147G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89341147G>T Locations: - p.Gly159Cys (Ensembl:ENSMUST00000023291) - c.475G>T (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389389347 | 175 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000081.7:g.89341195T>A Codon: TCG/ACG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89341195T>A Locations: - p.Ser175Thr (Ensembl:ENSMUST00000023291) - c.523T>A (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs242778676 | 201 | L>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000081.7:g.89341392T>A Codon: CTT/CAT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89341392T>A Locations: - p.Leu201His (Ensembl:ENSMUST00000023291) - c.602T>A (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389389330 | 231 | I>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000081.7:g.89341482T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89341482T>G Locations: - p.Ile231Ser (Ensembl:ENSMUST00000023291) - c.692T>G (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389373105 | 344 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000081.7:g.89341822G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89341822G>T Locations: - p.Glu344Asp (Ensembl:ENSMUST00000023291) - c.1032G>T (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389376792 | 352 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000081.7:g.89341845A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89341845A>G Locations: - p.Asp352Gly (Ensembl:ENSMUST00000023291) - c.1055A>G (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs224896504 | 389 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.68) Somatic: No Accession: NC_000081.7:g.89341955G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89341955G>A Locations: - p.Ala389Thr (Ensembl:ENSMUST00000023291) - c.1165G>A (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389385928 | 409 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000081.7:g.89342016T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89342016T>A Locations: - p.Val409Glu (Ensembl:ENSMUST00000023291) - c.1226T>A (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389380285 | 424 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000081.7:g.89342060G>C Codon: GCG/CCG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89342060G>C Locations: - p.Ala424Pro (Ensembl:ENSMUST00000023291) - c.1270G>C (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389362935 | 427 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000081.7:g.89342069G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89342069G>A Locations: - p.Ala427Thr (Ensembl:ENSMUST00000023291) - c.1279G>A (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389351736 | 437 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000081.7:g.89342099C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89342099C>T Locations: - p.Pro437Ser (Ensembl:ENSMUST00000023291) - c.1309C>T (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389334285 | 447 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000081.7:g.89342129G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89342129G>A Locations: - p.Asp447Asn (Ensembl:ENSMUST00000023291) - c.1339G>A (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389381166 | 447 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000081.7:g.89342130A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89342130A>T Locations: - p.Asp447Val (Ensembl:ENSMUST00000023291) - c.1340A>T (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs263327852 | 475 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000081.7:g.89342215G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89342215G>T Locations: - p.Glu475Asp (Ensembl:ENSMUST00000023291) - c.1425G>T (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3551933086 | 477 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.65) Somatic: No Accession: NC_000081.7:g.89342221T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89342221T>G Locations: - p.Asp477Glu (Ensembl:ENSMUST00000023291) - c.1431T>G (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389385908 | 535 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000081.7:g.89342394G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89342394G>A Locations: - p.Cys535Tyr (Ensembl:ENSMUST00000023291) - c.1604G>A (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389373062 | 550 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_000081.7:g.89342439C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89342439C>T Locations: - p.Ala550Val (Ensembl:ENSMUST00000023291) - c.1649C>T (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3405882934 | 635 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.89343164C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89343164C>A Locations: - p.Asp635Glu (Ensembl:ENSMUST00000023291) - c.1905C>A (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389392828 | 652 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.89343214A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89343214A>C Locations: - p.Asn652Thr (Ensembl:ENSMUST00000023291) - c.1955A>C (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389392788 | 670 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000081.7:g.89343267C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89343267C>T Locations: - p.Pro670Ser (Ensembl:ENSMUST00000023291) - c.2008C>T (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389380273 | 709 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.89343478G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89343478G>A Locations: - p.Cys709Tyr (Ensembl:ENSMUST00000023291) - c.2126G>A (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3406773334 | 715 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.89344579A>C Codon: ATT/CTT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89344579A>C Locations: - p.Ile715Leu (Ensembl:ENSMUST00000023291) - c.2143A>C (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3406129724 | 717 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000081.7:g.89344585A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89344585A>G Locations: - p.Thr717Ala (Ensembl:ENSMUST00000023291) - c.2149A>G (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389373090 | 727 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.89344616C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89344616C>A Locations: - p.Pro727His (Ensembl:ENSMUST00000023291) - c.2180C>A (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389392795 | 770 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.89344912C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89344912C>T Locations: - p.Pro770Ser (Ensembl:ENSMUST00000023291) - c.2308C>T (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: | |||||||
rs3389362924 | 776 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.89345569T>G Codon: TTT/TTG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.89345569T>G Locations: - p.Phe776Leu (Ensembl:ENSMUST00000023291) - c.2328T>G (Ensembl:ENSMUST00000023291) Source type: large scale study Cross-references: |