G3UX36 · G3UX36_MOUSE
- ProteinPaired box 7
- GenePax7
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids505 (go to sequence)
- Protein existenceInferred from homology
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388719811 | 11 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000070.7:g.139560190C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139560190C>T Locations: - p.Met11Ile (Ensembl:ENSMUST00000174681) - c.33G>A (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3394820044 | 12 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000070.7:g.139560187C>G Codon: ATG/ATC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139560187C>G Locations: - p.Met12Ile (Ensembl:ENSMUST00000174681) - c.36G>C (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3394943205 | 13 | R>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000070.7:g.139560186T>A Codon: AGA/TGA Consequence type: stop gained Cytogenetic band: 4q Genomic location: NC_000070.7:g.139560186T>A Locations: - p.Arg13Ter (Ensembl:ENSMUST00000174681) - c.37A>T (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388710813 | 28 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000070.7:g.139560140T>A Codon: GAA/GTA Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139560140T>A Locations: - p.Glu28Val (Ensembl:ENSMUST00000174681) - c.83A>T (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388723627 | 67 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000070.7:g.139557570A>T Codon: ATC/AAC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139557570A>T Locations: - p.Ile67Asn (Ensembl:ENSMUST00000174681) - c.200T>A (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388718588 | 68 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000070.7:g.139557567C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139557567C>T Locations: - p.Arg68Gln (Ensembl:ENSMUST00000174681) - c.203G>A (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388726069 | 81 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000070.7:g.139557528C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139557528C>A Locations: - p.Gly81Val (Ensembl:ENSMUST00000174681) - c.242G>T (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388730809 | 85 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000070.7:g.139557516T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139557516T>C Locations: - p.Lys85Arg (Ensembl:ENSMUST00000174681) - c.254A>G (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388710849 | 88 | C>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000070.7:g.139557506G>T Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 4q Genomic location: NC_000070.7:g.139557506G>T Locations: - p.Cys88Ter (Ensembl:ENSMUST00000174681) - c.264C>A (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388720261 | 88 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000070.7:g.139557507C>G Codon: TGC/TCC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139557507C>G Locations: - p.Cys88Ser (Ensembl:ENSMUST00000174681) - c.263G>C (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3395116971 | 120 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000070.7:g.139556901C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139556901C>G Locations: - p.Glu120Gln (Ensembl:ENSMUST00000174681) - c.358G>C (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3394713611 | 121 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000070.7:g.139556897_139556898insCGCTTTCCT Codon: TAT/TAGGAAAGCGAT Consequence type: stop gained Cytogenetic band: 4q Genomic location: NC_000070.7:g.139556897_139556898insCGCTTTCCT Locations: - p.Tyr121delinsTer (Ensembl:ENSMUST00000174681) - c.362_363insGGAAAGCGA (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388718597 | 123 | R>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000070.7:g.139556892T>A Codon: AGA/TGA Consequence type: stop gained Cytogenetic band: 4q Genomic location: NC_000070.7:g.139556892T>A Locations: - p.Arg123Ter (Ensembl:ENSMUST00000174681) - c.367A>T (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388723622 | 124 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000070.7:g.139556888T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139556888T>A Locations: - p.Glu124Val (Ensembl:ENSMUST00000174681) - c.371A>T (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388718542 | 199 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.31) Somatic: No Accession: NC_000070.7:g.139511985G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139511985G>T Locations: - p.Leu199Met (Ensembl:ENSMUST00000174681) - c.595C>A (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3394887333 | 223 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000070.7:g.139511912G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139511912G>A Locations: - p.Thr223Met (Ensembl:ENSMUST00000174681) - c.668C>T (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388720256 | 232 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000070.7:g.139511885A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139511885A>G Locations: - p.Leu232Pro (Ensembl:ENSMUST00000174681) - c.695T>C (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs212836308 | 235 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000070.7:g.139511876G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139511876G>A Locations: - p.Ala235Val (Ensembl:ENSMUST00000174681) - c.704C>T (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388722252 | 255 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000070.7:g.139511816T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139511816T>C Locations: - p.Lys255Arg (Ensembl:ENSMUST00000174681) - c.764A>G (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388726007 | 264 | W>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000070.7:g.139508232C>A Codon: TGG/TGT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139508232C>A Locations: - p.Trp264Cys (Ensembl:ENSMUST00000174681) - c.792G>T (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3412808645 | 267 | N>I | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000070.7:g.139508227_139508228insCGAACCAGACTCTGAAGGTCCCTGCAGGCCTTCCTGGTGGCTCAGCCTCCTCTCCCCTTCAGGTCTGGTTCAGTAACCGGCGTGCCCGCTGGCGCACGCCGGATAC Codon: AAC/ATCCGGCGTGCGCCAGCGGGCACGCCGGTTACTGAACCAGACCTGAAGGGGAGAGGAGGCTGAGCCACCAGGAAGGCCTGCAGGGACCTTCAGAGTCTGGTTCGGTAAC Consequence type: stop gained Cytogenetic band: 4q Genomic location: NC_000070.7:g.139508227_139508228insCGAACCAGACTCTGAAGGTCCCTGCAGGCCTTCCTGGTGGCTCAGCCTCCTCTCCCCTTCAGGTCTGGTTCAGTAACCGGCGTGCCCGCTGGCGCACGCCGGATAC Locations: - p.Asn267IlefsTer21 (Ensembl:ENSMUST00000174681) - c.799_800insTCCGGCGTGCGCCAGCGGGCACGCCGGTTACTGAACCAGACCTGAAGGGGAGAGGAGGCTGAGCCACCAGGAAGGCCTGCAGGGACCTTCAGAGTCTGGTTCGGTA (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388730846 | 295 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000070.7:g.139508140G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139508140G>A Locations: - p.Thr295Ile (Ensembl:ENSMUST00000174681) - c.884C>T (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388727285 | 314 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.6) Somatic: No Accession: NC_000070.7:g.139508084T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139508084T>A Locations: - p.Thr314Ser (Ensembl:ENSMUST00000174681) - c.940A>T (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388720225 | 315 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NC_000070.7:g.139508081T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139508081T>G Locations: - p.Ile315Leu (Ensembl:ENSMUST00000174681) - c.943A>C (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388719878 | 325 | R>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000070.7:g.139507068C>A Codon: AGG/ATG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139507068C>A Locations: - p.Arg325Met (Ensembl:ENSMUST00000174681) - c.974G>T (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388724933 | 418 | S>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000070.7:g.139476392G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139476392G>T Locations: - p.Ser418Tyr (Ensembl:ENSMUST00000174681) - c.1253C>A (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388719827 | 430 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000070.7:g.139476357T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139476357T>C Locations: - p.Ile430Val (Ensembl:ENSMUST00000174681) - c.1288A>G (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388722243 | 475 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000070.7:g.139468192T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139468192T>C Locations: - p.Lys475Arg (Ensembl:ENSMUST00000174681) - c.1424A>G (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388722218 | 476 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000070.7:g.139468189T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139468189T>G Locations: - p.Asn476Thr (Ensembl:ENSMUST00000174681) - c.1427A>C (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388723626 | 478 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000070.7:g.139468184T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139468184T>C Locations: - p.Ser478Gly (Ensembl:ENSMUST00000174681) - c.1432A>G (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388724939 | 494 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000070.7:g.139468136G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139468136G>T Locations: - p.Leu494Met (Ensembl:ENSMUST00000174681) - c.1480C>A (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: | |||||||
rs3388702893 | 498 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000070.7:g.139468124G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.139468124G>A Locations: - p.Pro498Ser (Ensembl:ENSMUST00000174681) - c.1492C>T (Ensembl:ENSMUST00000174681) Source type: large scale study Cross-references: |