O14525 · ASTN1_HUMAN
- ProteinAstrotactin-1
- GeneASTN1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1302 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
VAR_069030 rs2228956 | 932 | H>R | UniProt dbSNP | ||||
Consequence: missense Somatic: No Accession: Consequence type: missense Cytogenetic band: Genomic location: Locations: - p.His932Arg (UniProt:O14525) Source type: uniprot Cross-references: | |||||||
VAR_069031 rs2281180 | 942 | H>Q | UniProt dbSNP | ||||
Consequence: missense Somatic: No Accession: Consequence type: missense Cytogenetic band: Genomic location: Locations: - p.His942Gln (UniProt:O14525) Source type: uniprot Cross-references: | |||||||
VAR_036764 rs12118933 | 1270 | G>R | UniProt dbSNP | ||||
Consequence: missense Somatic: No Accession: Consequence type: missense Cytogenetic band: Genomic location: Locations: - p.Gly1270Arg (UniProt:O14525) Source type: uniprot Cross-references: | |||||||
VAR_055713 rs12118933 | 1278 | R>G | UniProt dbSNP | ||||
Consequence: missense Somatic: No Accession: Consequence type: missense Cytogenetic band: Genomic location: Locations: - p.Arg1278Gly (UniProt:O14525) Source type: uniprot Cross-references: |