P49335 · PO3F4_HUMAN
- ProteinPOU domain, class 3, transcription factor 4
- GenePOU3F4
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids361 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
VAR_015261 | 201-202 | FK>del | DFNX2 (UniProt) | UniProt | |||
Consequence: inframe deletion Somatic: No Accession: Consequence type: inframe deletion Cytogenetic band: Genomic location: Locations: - p.Phe201_Lys202del (UniProt:P49335) Disease association: - Deafness, X-linked, 2 (DFNX2) Source type: uniprot Cross-references: | |||||||
VAR_067431 rs5921979 | 237 | G>A | UniProt dbSNP | ||||
Consequence: missense Somatic: No Accession: Consequence type: missense Cytogenetic band: Genomic location: Locations: - p.Gly237Ala (UniProt:P49335) Source type: uniprot Cross-references: | |||||||
VAR_003782 rs387906502 | 312 | A>V | DFNX2 (UniProt) | Pathogenic (UniProt) | UniProt dbSNP | ||
Consequence: missense Somatic: No Accession: Consequence type: missense Cytogenetic band: Genomic location: Locations: - p.Ala312Val (UniProt:P49335) Disease association: - Deafness, X-linked, 2 (DFNX2) Source type: uniprot Cross-references: | |||||||
VAR_003783 rs104894921 | 317 | L>W | DFNX2 (UniProt) | Pathogenic (UniProt) | UniProt dbSNP | ||
Consequence: missense Somatic: No Accession: Consequence type: missense Cytogenetic band: Genomic location: Locations: - p.Leu317Trp (UniProt:P49335) Disease association: - Deafness, X-linked, 2 (DFNX2) Source type: uniprot Cross-references: | |||||||
VAR_003784 rs104894924 | 323 | R>G | DFNX2; somatic mosaicism in 50% of the peripheral blood lymphocytes (UniProt) | Pathogenic (UniProt) | UniProt dbSNP | ||
Consequence: missense Somatic: No Accession: Consequence type: missense Cytogenetic band: Genomic location: Locations: - p.Arg323Gly (UniProt:P49335) Disease association: - Deafness, X-linked, 2 (DFNX2) Source type: uniprot Cross-references: | |||||||
VAR_003785 rs104894923 | 330 | R>S | DFNX2 (UniProt) | Pathogenic (UniProt) | UniProt dbSNP | ||
Consequence: missense Somatic: No Accession: Consequence type: missense Cytogenetic band: Genomic location: Locations: - p.Arg330Ser (UniProt:P49335) Disease association: - Deafness, X-linked, 2 (DFNX2) Source type: uniprot Cross-references: | |||||||
VAR_003786 rs104894922 | 334 | K>E | DFNX2 (UniProt) | Pathogenic (UniProt) | UniProt dbSNP | ||
Consequence: missense Somatic: No Accession: Consequence type: missense Cytogenetic band: Genomic location: Locations: - p.Lys334Glu (UniProt:P49335) Disease association: - Deafness, X-linked, 2 (DFNX2) Source type: uniprot Cross-references: |