E9Q0I8 · E9Q0I8_MOUSE
- ProteinHomer scaffolding protein 1
- GeneHomer1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids180 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388456421 | 43 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000079.7:g.93524154C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.93524154C>T Locations: - p.Ala43Val (Ensembl:ENSMUST00000109497) - c.128C>T (Ensembl:ENSMUST00000109497) Source type: large scale study Cross-references: | |||||||
rs3389224634 | 89 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000079.7:g.93528301A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.93528301A>C Locations: - p.Lys89Gln (Ensembl:ENSMUST00000109497) - c.265A>C (Ensembl:ENSMUST00000109497) Source type: large scale study Cross-references: | |||||||
rs3389294670 | 141 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000079.7:g.93538616G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.93538616G>A Locations: - p.Ser141Asn (Ensembl:ENSMUST00000109497) - c.422G>A (Ensembl:ENSMUST00000109497) Source type: large scale study Cross-references: | |||||||
rs3404513816 | 160 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000079.7:g.93538673A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.93538673A>T Locations: - p.Asp160Val (Ensembl:ENSMUST00000109497) - c.479A>T (Ensembl:ENSMUST00000109497) Source type: large scale study Cross-references: | |||||||
rs3404284299 | 162 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000079.7:g.93538678A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.93538678A>C Locations: - p.Lys162Gln (Ensembl:ENSMUST00000109497) - c.484A>C (Ensembl:ENSMUST00000109497) Source type: large scale study Cross-references: | |||||||
rs3404284382 | 165 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.52) Somatic: No Accession: NC_000079.7:g.93538689A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.93538689A>T Locations: - p.Glu165Asp (Ensembl:ENSMUST00000109497) - c.495A>T (Ensembl:ENSMUST00000109497) Source type: large scale study Cross-references: | |||||||
rs3404595212 | 165 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000079.7:g.93538687G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.93538687G>C Locations: - p.Glu165Gln (Ensembl:ENSMUST00000109497) - c.493G>C (Ensembl:ENSMUST00000109497) Source type: large scale study Cross-references: |