O88848 · ARL6_MOUSE
- ProteinADP-ribosylation factor-like protein 6
- GeneArl6
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids186 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs229025763 | 14 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: No Accession: NC_000082.7:g.59452756T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.59452756T>C Locations: - p.Lys14Arg (Ensembl:ENSMUST00000023405) - c.41A>G (Ensembl:ENSMUST00000023405) Source type: large scale study Cross-references: | |||||||
rs3389403222 | 33 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.59452699A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.59452699A>G Locations: - p.Ile33Thr (Ensembl:ENSMUST00000023405) - c.98T>C (Ensembl:ENSMUST00000023405) Source type: large scale study Cross-references: | |||||||
rs3389420687 | 37 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000082.7:g.59452688G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.59452688G>T Locations: - p.Leu37Met (Ensembl:ENSMUST00000023405) - c.109C>A (Ensembl:ENSMUST00000023405) Source type: large scale study Cross-references: | |||||||
rs3552267670 | 88 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000082.7:g.59443471G>T Codon: CAA/AAA Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.59443471G>T Locations: - p.Gln88Lys (Ensembl:ENSMUST00000023405) - c.262C>A (Ensembl:ENSMUST00000023405) Source type: large scale study Cross-references: | |||||||
rs3389415980 | 112 | L>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.59443398A>T Codon: CTT/CAT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.59443398A>T Locations: - p.Leu112His (Ensembl:ENSMUST00000023405) - c.335T>A (Ensembl:ENSMUST00000023405) Source type: large scale study Cross-references: | |||||||
rs3405322506 | 116 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000082.7:g.59443387G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.59443387G>T Locations: - p.Pro116Thr (Ensembl:ENSMUST00000023405) - c.346C>A (Ensembl:ENSMUST00000023405) Source type: large scale study Cross-references: | |||||||
rs245183020 | 151 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000082.7:g.59441609C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.59441609C>T Locations: - p.Ser151Asn (Ensembl:ENSMUST00000023405) - c.452G>A (Ensembl:ENSMUST00000023405) Source type: large scale study Cross-references: | |||||||
rs3389424205 | 157 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000082.7:g.59441590_59441591insACACTACCTCAACCATCACT Codon: TGG/TGAGTGATGGTTGAGGTAGTGTG Consequence type: stop gained Cytogenetic band: 16q Genomic location: NC_000082.7:g.59441590_59441591insACACTACCTCAACCATCACT Locations: - p.Trp157Ter (Ensembl:ENSMUST00000023405) - c.470_471insAGTGATGGTTGAGGTAGTGT (Ensembl:ENSMUST00000023405) Source type: large scale study Cross-references: | |||||||
rs3389419614 | 158 | H>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.59441589G>C Codon: CAT/GAT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.59441589G>C Locations: - p.His158Asp (Ensembl:ENSMUST00000023405) - c.472C>G (Ensembl:ENSMUST00000023405) Source type: large scale study Cross-references: | |||||||
rs3407036165 | 174 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000082.7:g.59439173C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.59439173C>A Locations: - p.Val174Leu (Ensembl:ENSMUST00000023405) - c.520G>T (Ensembl:ENSMUST00000023405) Source type: large scale study Cross-references: | |||||||
rs3552343204 | 186 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000082.7:g.59434186G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.59434186G>A Locations: - p.Thr186Met (Ensembl:ENSMUST00000023405) - c.557C>T (Ensembl:ENSMUST00000023405) Source type: large scale study Cross-references: |