O35984 · PBX2_MOUSE
- ProteinPre-B-cell leukemia transcription factor 2
- GenePbx2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids430 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389455239 | 41 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.42) Somatic: No Accession: NC_000083.7:g.34811650T>G Codon: AGT/AGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.34811650T>G Locations: - p.Ser41Arg (Ensembl:ENSMUST00000038149) - c.123T>G (Ensembl:ENSMUST00000038149) Source type: large scale study Cross-references: | |||||||
rs3389455572 | 148 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000083.7:g.34812988G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.34812988G>A Locations: - p.Gly148Asp (Ensembl:ENSMUST00000038149) - c.443G>A (Ensembl:ENSMUST00000038149) Source type: large scale study Cross-references: | |||||||
rs3389405870 | 161 | Y>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.34813027A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.34813027A>G Locations: - p.Tyr161Cys (Ensembl:ENSMUST00000038149) - c.482A>G (Ensembl:ENSMUST00000038149) Source type: large scale study Cross-references: | |||||||
rs3552793482 | 213 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.4) Somatic: No Accession: NC_000083.7:g.34813306G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.34813306G>A Locations: - p.Ser213Asn (Ensembl:ENSMUST00000038149) - c.638G>A (Ensembl:ENSMUST00000038149) Source type: large scale study Cross-references: | |||||||
rs3389415191 | 358 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000083.7:g.34814286G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.34814286G>A Locations: - p.Gly358Arg (Ensembl:ENSMUST00000038149) - c.1072G>A (Ensembl:ENSMUST00000038149) Source type: large scale study Cross-references: | |||||||
rs3389450525 | 415 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000083.7:g.34814841C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.34814841C>T Locations: - p.Thr415Ile (Ensembl:ENSMUST00000038149) - c.1244C>T (Ensembl:ENSMUST00000038149) Source type: large scale study Cross-references: | |||||||
rs3406618365 | 417 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.34814847C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.34814847C>T Locations: - p.Pro417Leu (Ensembl:ENSMUST00000038149) - c.1250C>T (Ensembl:ENSMUST00000038149) Source type: large scale study Cross-references: | |||||||
rs3389459013 | 424 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000083.7:g.34814868T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.34814868T>C Locations: - p.Val424Ala (Ensembl:ENSMUST00000038149) - c.1271T>C (Ensembl:ENSMUST00000038149) Source type: large scale study Cross-references: | |||||||
rs3389405830 | 430 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.34814886A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.34814886A>T Locations: - p.Asn430Ile (Ensembl:ENSMUST00000038149) - c.1289A>T (Ensembl:ENSMUST00000038149) Source type: large scale study Cross-references: |