Q80YV2 · ZC3C1_MOUSE
- ProteinZinc finger C3HC-type protein 1
- GeneZc3hc1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids501 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score4/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs247226230 | 13 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000072.7:g.30390965T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.30390965T>C Locations: - p.Ser13Gly (Ensembl:ENSMUST00000080812) - c.37A>G (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs3388787517 | 16 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000072.7:g.30390955T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.30390955T>A Locations: - p.Lys16Met (Ensembl:ENSMUST00000080812) - c.47A>T (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs224439421 | 19 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000072.7:g.30390946C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.30390946C>A Locations: - p.Gly19Val (Ensembl:ENSMUST00000080812) - c.56G>T (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs3388824008 | 49 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.89) Somatic: No Accession: NC_000072.7:g.30390857G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.30390857G>A Locations: - p.Pro49Ser (Ensembl:ENSMUST00000080812) - c.145C>T (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs3388820293 | 55 | T>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.69) Somatic: No Accession: NC_000072.7:g.30387514G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.30387514G>C Locations: - p.Thr55Arg (Ensembl:ENSMUST00000080812) - c.164C>G (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs13464471 | 65 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_000072.7:g.30387485C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.30387485C>A Locations: - p.Ala65Ser (Ensembl:ENSMUST00000080812) - c.193G>T (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs36597616 | 68 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.64) Somatic: No Accession: NC_000072.7:g.30387476A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.30387476A>G Locations: - p.Ser68Pro (Ensembl:ENSMUST00000080812) - c.202T>C (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs3388820219 | 77 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.30387449C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.30387449C>T Locations: - p.Ala77Thr (Ensembl:ENSMUST00000080812) - c.229G>A (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs3388820608 | 134 | F>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.30382544A>C Codon: TTT/TGT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.30382544A>C Locations: - p.Phe134Cys (Ensembl:ENSMUST00000080812) - c.401T>G (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs3388826677 | 139 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000072.7:g.30381857T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.30381857T>C Locations: - p.Glu139Gly (Ensembl:ENSMUST00000080812) - c.416A>G (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs3388814935 | 159 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.30381798G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.30381798G>T Locations: - p.Pro159Thr (Ensembl:ENSMUST00000080812) - c.475C>A (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs3388809907 | 181 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000072.7:g.30376016C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.30376016C>G Locations: - p.Glu181Asp (Ensembl:ENSMUST00000080812) - c.543G>C (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs3388820901 | 210 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.30374912T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.30374912T>C Locations: - p.Thr210Ala (Ensembl:ENSMUST00000080812) - c.628A>G (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs3388820621 | 219 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.30374884T>A Codon: CAC/CTC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.30374884T>A Locations: - p.His219Leu (Ensembl:ENSMUST00000080812) - c.656A>T (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs3388814889 | 262 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000072.7:g.30373475C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 6q Genomic location: NC_000072.7:g.30373475C>A Locations: - p.Glu262Ter (Ensembl:ENSMUST00000080812) - c.784G>T (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs3388824022 | 273 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000072.7:g.30373442G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 6q Genomic location: NC_000072.7:g.30373442G>A Locations: - p.Gln273Ter (Ensembl:ENSMUST00000080812) - c.817C>T (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs3388820260 | 306 | G>VS | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000072.7:g.30373342_30373343insTACCTCAACCATCACTCA Codon: GGT/GTGAGTGATGGTTGAGGTAGT Consequence type: stop gained Cytogenetic band: 6q Genomic location: NC_000072.7:g.30373342_30373343insTACCTCAACCATCACTCA Locations: - p.Gly306delinsValSerAspGlyTer (Ensembl:ENSMUST00000080812) - c.916_917insTGAGTGATGGTTGAGGTA (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs3388804065 | 316 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000072.7:g.30373313G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.30373313G>T Locations: - p.Leu316Met (Ensembl:ENSMUST00000080812) - c.946C>A (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs3388804007 | 318 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000072.7:g.30373306G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.30373306G>A Locations: - p.Pro318Leu (Ensembl:ENSMUST00000080812) - c.953C>T (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs260034296 | 348 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000072.7:g.30372925C>G Codon: GTT/CTT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.30372925C>G Locations: - p.Val348Leu (Ensembl:ENSMUST00000080812) - c.1042G>C (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs3388820224 | 368 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000072.7:g.30372864G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.30372864G>T Locations: - p.Ala368Asp (Ensembl:ENSMUST00000080812) - c.1103C>A (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs3388820655 | 385 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_000072.7:g.30372812A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.30372812A>T Locations: - p.Asp385Glu (Ensembl:ENSMUST00000080812) - c.1155T>A (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs3388806275 | 408 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000072.7:g.30372743G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.30372743G>T Locations: - p.Ser408Arg (Ensembl:ENSMUST00000080812) - c.1224C>A (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs37502872 | 414 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.82) Somatic: No Accession: NC_000072.7:g.30370461G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.30370461G>A Locations: - p.Pro414Ser (Ensembl:ENSMUST00000080812) - c.1240C>T (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs218848400 | 499 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_000072.7:g.30366687A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.30366687A>T Locations: - p.Ser499Thr (Ensembl:ENSMUST00000080812) - c.1495T>A (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: | |||||||
rs252056044 | 501 | S>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000072.7:g.30366680G>T Codon: TCG/TAG Consequence type: stop gained Cytogenetic band: 6q Genomic location: NC_000072.7:g.30366680G>T Locations: - p.Ser501Ter (Ensembl:ENSMUST00000080812) - c.1502C>A (Ensembl:ENSMUST00000080812) Source type: large scale study Cross-references: |