E9PWE3 · E9PWE3_MOUSE
- ProteinTranscription factor E2-alpha
- GeneTcf3
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids645 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389103390 | 42 | G>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.80263529C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80263529C>A Locations: - p.Gly42Trp (Ensembl:ENSMUST00000105341) - c.124G>T (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs3389126095 | 73 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000076.7:g.80257170C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80257170C>T Locations: - p.Ser73Asn (Ensembl:ENSMUST00000105341) - c.218G>A (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs3389112511 | 82 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.80256979A>T Codon: TTC/ATC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80256979A>T Locations: - p.Phe82Ile (Ensembl:ENSMUST00000105341) - c.244T>A (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs3389112518 | 88 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000076.7:g.80256960C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80256960C>T Locations: - p.Ser88Asn (Ensembl:ENSMUST00000105341) - c.263G>A (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs3389126103 | 119 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000076.7:g.80255868C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80255868C>T Locations: - p.Gly119Asp (Ensembl:ENSMUST00000105341) - c.356G>A (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs3401378779 | 157 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.80255333T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80255333T>G Locations: - p.Asn157Thr (Ensembl:ENSMUST00000105341) - c.470A>C (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs3389103383 | 169 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000076.7:g.80254646G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80254646G>A Locations: - p.Thr169Ile (Ensembl:ENSMUST00000105341) - c.506C>T (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs3389120175 | 172 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000076.7:g.80254637T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80254637T>G Locations: - p.Lys172Thr (Ensembl:ENSMUST00000105341) - c.515A>C (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs3389081510 | 175 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.80254628C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80254628C>A Locations: - p.Arg175Leu (Ensembl:ENSMUST00000105341) - c.524G>T (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs3400758710 | 193 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000076.7:g.80253450T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80253450T>C Locations: - p.Ser193Gly (Ensembl:ENSMUST00000105341) - c.577A>G (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs3401471829 | 199 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000076.7:g.80253431G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80253431G>A Locations: - p.Ala199Val (Ensembl:ENSMUST00000105341) - c.596C>T (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs3400210772 | 215 | F>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000076.7:g.80253383A>C Codon: TTC/TGC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80253383A>C Locations: - p.Phe215Cys (Ensembl:ENSMUST00000105341) - c.644T>G (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs3389112014 | 240 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000076.7:g.80253240C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80253240C>T Locations: - p.Met240Ile (Ensembl:ENSMUST00000105341) - c.720G>A (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs3389112005 | 241 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000076.7:g.80253239G>T Codon: CTA/ATA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80253239G>T Locations: - p.Leu241Ile (Ensembl:ENSMUST00000105341) - c.721C>A (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs3389087870 | 256 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000076.7:g.80253193G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80253193G>A Locations: - p.Ser256Phe (Ensembl:ENSMUST00000105341) - c.767C>T (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs579160625 | 261 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000076.7:g.80253178G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80253178G>T Locations: - p.Thr261Asn (Ensembl:ENSMUST00000105341) - c.782C>A (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs3389117126 | 298 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.55) Somatic: No Accession: NC_000076.7:g.80252980C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80252980C>T Locations: - p.Ser298Asn (Ensembl:ENSMUST00000105341) - c.893G>A (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs3389106546 | 316 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000076.7:g.80252926A>G Codon: CTA/CCA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80252926A>G Locations: - p.Leu316Pro (Ensembl:ENSMUST00000105341) - c.947T>C (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs3389103392 | 401 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.80251305T>A Codon: CAC/CTC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80251305T>A Locations: - p.His401Leu (Ensembl:ENSMUST00000105341) - c.1202A>T (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs3389112061 | 403 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.80251300C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80251300C>T Locations: - p.Val403Ile (Ensembl:ENSMUST00000105341) - c.1207G>A (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs252425924 | 418 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000076.7:g.80251255C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80251255C>T Locations: - p.Ala418Thr (Ensembl:ENSMUST00000105341) - c.1252G>A (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs3389126087 | 440 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000076.7:g.80251113T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80251113T>A Locations: - p.Ser440Cys (Ensembl:ENSMUST00000105341) - c.1318A>T (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs3389124568 | 491 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.52) Somatic: No Accession: NC_000076.7:g.80249134C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80249134C>G Locations: - p.Glu491Asp (Ensembl:ENSMUST00000105341) - c.1473G>C (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs3389112496 | 495 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000076.7:g.80249124C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 10q Genomic location: NC_000076.7:g.80249124C>A Locations: - p.Glu495Ter (Ensembl:ENSMUST00000105341) - c.1483G>T (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs231429124 | 508 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000076.7:g.80249085C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80249085C>T Locations: - p.Ala508Thr (Ensembl:ENSMUST00000105341) - c.1522G>A (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: | |||||||
rs3389126050 | 640 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.80245984G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80245984G>T Locations: - p.Asn640Lys (Ensembl:ENSMUST00000105341) - c.1920C>A (Ensembl:ENSMUST00000105341) Source type: large scale study Cross-references: |