A0A3B2W4F1 · A0A3B2W4F1_MOUSE
- ProteinFER tyrosine kinase
- GeneFer
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids160 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389435044 | 69 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.64218502C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.64218502C>T Locations: - p.Gln69Ter (Ensembl:ENSMUST00000233225) - c.205C>T (Ensembl:ENSMUST00000233225) Source type: large scale study Cross-references: | |||||||
rs3389442992 | 98 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000083.7:g.64228638A>T Codon: TAT/TTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.64228638A>T Locations: - p.Tyr98Phe (Ensembl:ENSMUST00000233225) - c.293A>T (Ensembl:ENSMUST00000233225) Source type: large scale study Cross-references: | |||||||
rs3389476912 | 103 | M>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.64228653T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.64228653T>A Locations: - p.Met103Lys (Ensembl:ENSMUST00000233225) - c.308T>A (Ensembl:ENSMUST00000233225) Source type: large scale study Cross-references: | |||||||
rs3389469211 | 130 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.64228733A>C Codon: ACA/CCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.64228733A>C Locations: - p.Thr130Pro (Ensembl:ENSMUST00000233225) - c.388A>C (Ensembl:ENSMUST00000233225) Source type: large scale study Cross-references: | |||||||
rs3389471494 | 148 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000083.7:g.64228787G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.64228787G>T Locations: - p.Ala148Ser (Ensembl:ENSMUST00000233225) - c.442G>T (Ensembl:ENSMUST00000233225) Source type: large scale study Cross-references: |