Q9Z0G2 · SRPK3_MOUSE
- ProteinSRSF protein kinase 3
- GeneSrpk3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids565 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389472680 | 33 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000086.8:g.72818230T>A Codon: TTA/ATA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72818230T>A Locations: - p.Leu33Ile (Ensembl:ENSMUST00000002081) - c.97T>A (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs3389512077 | 35 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000086.8:g.72818236C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72818236C>A Locations: - p.Pro35Thr (Ensembl:ENSMUST00000002081) - c.103C>A (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs3389556455 | 42 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000086.8:g.72818257T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72818257T>A Locations: - p.Leu42Met (Ensembl:ENSMUST00000002081) - c.124T>A (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs3389520871 | 95 | C>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000086.8:g.72818596C>G Codon: TGC/TGG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72818596C>G Locations: - p.Cys95Trp (Ensembl:ENSMUST00000002081) - c.285C>G (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs3389564693 | 108 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.72818736T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72818736T>C Locations: - p.Val108Ala (Ensembl:ENSMUST00000002081) - c.323T>C (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs3410668938 | 109 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.72818739T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72818739T>A Locations: - p.Val109Glu (Ensembl:ENSMUST00000002081) - c.326T>A (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs3389520922 | 120 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000086.8:g.72818771G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72818771G>A Locations: - p.Val120Met (Ensembl:ENSMUST00000002081) - c.358G>A (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs3389520888 | 209 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.72819850A>T Codon: CAT/CTT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72819850A>T Locations: - p.His209Leu (Ensembl:ENSMUST00000002081) - c.626A>T (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs3411299273 | 270 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000086.8:g.72820614G>C Codon: AGG/AGC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72820614G>C Locations: - p.Arg270Ser (Ensembl:ENSMUST00000002081) - c.810G>C (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs3389543319 | 278 | R>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000086.8:g.72820637G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72820637G>T Locations: - p.Arg278Met (Ensembl:ENSMUST00000002081) - c.833G>T (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs3389567547 | 290 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000086.8:g.72820672C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72820672C>G Locations: - p.Leu290Val (Ensembl:ENSMUST00000002081) - c.868C>G (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs3389543306 | 312 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000086.8:g.72820827C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72820827C>T Locations: - p.Ser312Phe (Ensembl:ENSMUST00000002081) - c.935C>T (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs254653925 | 331 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000086.8:g.72820884C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72820884C>G Locations: - p.Ser331Cys (Ensembl:ENSMUST00000002081) - c.992C>G (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs3389575633 | 333 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000086.8:g.72820889T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72820889T>C Locations: - p.Ser333Pro (Ensembl:ENSMUST00000002081) - c.997T>C (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs13469134 | 339 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000086.8:g.72820908A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72820908A>G Locations: - p.Glu339Gly (Ensembl:ENSMUST00000002081) - c.1016A>G (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs3389531234 | 376 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000086.8:g.72821018C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72821018C>T Locations: - p.Leu376Phe (Ensembl:ENSMUST00000002081) - c.1126C>T (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs3389575691 | 378 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000086.8:g.72821025C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72821025C>T Locations: - p.Ser378Phe (Ensembl:ENSMUST00000002081) - c.1133C>T (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs3389556494 | 387 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.72821133A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72821133A>T Locations: - p.Asn387Ile (Ensembl:ENSMUST00000002081) - c.1160A>T (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs3389579765 | 479 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.72821874A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72821874A>T Locations: - p.Ile479Phe (Ensembl:ENSMUST00000002081) - c.1435A>T (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs3389556503 | 501 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.72821940T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72821940T>G Locations: - p.Phe501Val (Ensembl:ENSMUST00000002081) - c.1501T>G (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs222680753 | 511 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.52) Somatic: No Accession: NC_000086.8:g.72822128C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72822128C>A Locations: - p.Pro511His (Ensembl:ENSMUST00000002081) - c.1532C>A (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs3389543252 | 515 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000086.8:g.72822141C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72822141C>A Locations: - p.His515Gln (Ensembl:ENSMUST00000002081) - c.1545C>A (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs3389543321 | 544 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.72822226A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72822226A>G Locations: - p.Met544Val (Ensembl:ENSMUST00000002081) - c.1630A>G (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs3389575703 | 548 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.72822238C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72822238C>T Locations: - p.Pro548Ser (Ensembl:ENSMUST00000002081) - c.1642C>T (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs3410563187 | 556 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.76) Somatic: No Accession: NC_000086.8:g.72822264C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72822264C>A Locations: - p.Asp556Glu (Ensembl:ENSMUST00000002081) - c.1668C>A (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: | |||||||
rs29038361 | 565 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.72822289C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72822289C>A Locations: - p.Pro565Thr (Ensembl:ENSMUST00000002081) - c.1693C>A (Ensembl:ENSMUST00000002081) Source type: large scale study Cross-references: |