A0A5F8MPQ9 · A0A5F8MPQ9_MOUSE
- ProteinNeurexin III
- GeneNrxn3
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids635 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs47375549 | 73 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89780387C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89780387C>A Locations: - p.Pro73His (Ensembl:ENSMUST00000238943) - c.218C>A (Ensembl:ENSMUST00000238943) Source type: large scale study Cross-references: | |||||||
rs3389246547 | 77 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89780399G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89780399G>A Locations: - p.Arg77Gln (Ensembl:ENSMUST00000238943) - c.230G>A (Ensembl:ENSMUST00000238943) Source type: large scale study Cross-references: | |||||||
rs3389227575 | 202 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.90171294T>G Codon: CTA/CGA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.90171294T>G Locations: - p.Leu202Arg (Ensembl:ENSMUST00000238943) - c.605T>G (Ensembl:ENSMUST00000238943) Source type: large scale study Cross-references: | |||||||
rs3389246536 | 238 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.90171402A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.90171402A>G Locations: - p.Asn238Ser (Ensembl:ENSMUST00000238943) - c.713A>G (Ensembl:ENSMUST00000238943) Source type: large scale study Cross-references: | |||||||
rs3389249542 | 240 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.90171407G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.90171407G>A Locations: - p.Ala240Thr (Ensembl:ENSMUST00000238943) - c.718G>A (Ensembl:ENSMUST00000238943) Source type: large scale study Cross-references: | |||||||
rs3389260459 | 258 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000078.7:g.90171461G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 12q Genomic location: NC_000078.7:g.90171461G>T Locations: - p.Glu258Ter (Ensembl:ENSMUST00000238943) - c.772G>T (Ensembl:ENSMUST00000238943) Source type: large scale study Cross-references: | |||||||
rs3389268521 | 301 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.90171592G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.90171592G>T Locations: - p.Gln301His (Ensembl:ENSMUST00000238943) - c.903G>T (Ensembl:ENSMUST00000238943) Source type: large scale study Cross-references: | |||||||
rs3389256486 | 350 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000078.7:g.90298325T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.90298325T>C Locations: - p.Val350Ala (Ensembl:ENSMUST00000238943) - c.1049T>C (Ensembl:ENSMUST00000238943) Source type: large scale study Cross-references: | |||||||
rs3412868249 | 364 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.90298366A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.90298366A>C Locations: - p.Thr364Pro (Ensembl:ENSMUST00000238943) - c.1090A>C (Ensembl:ENSMUST00000238943) Source type: large scale study Cross-references: | |||||||
rs3389184431 | 502 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.90298781C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.90298781C>T Locations: - p.Pro502Leu (Ensembl:ENSMUST00000238943) - c.1505C>T (Ensembl:ENSMUST00000238943) Source type: large scale study Cross-references: | |||||||
rs3403662215 | 539 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000078.7:g.90298891A>C Codon: ACG/CCG Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.90298891A>C Locations: - p.Thr539Pro (Ensembl:ENSMUST00000238943) - c.1615A>C (Ensembl:ENSMUST00000238943) Source type: large scale study Cross-references: | |||||||
rs3389262608 | 543 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.90298903A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.90298903A>T Locations: - p.Ile543Phe (Ensembl:ENSMUST00000238943) - c.1627A>T (Ensembl:ENSMUST00000238943) Source type: large scale study Cross-references: | |||||||
rs3403569145 | 636 | *>Y | EVA | ||||
Consequence: stop lost Somatic: No Accession: NC_000078.7:g.90299184A>C Codon: TAA/TAC Consequence type: stop lost Cytogenetic band: 12q Genomic location: NC_000078.7:g.90299184A>C Locations: - p.Ter636TyrextTer2 (Ensembl:ENSMUST00000238943) - c.1908A>C (Ensembl:ENSMUST00000238943) Source type: large scale study Cross-references: |