G3V023 · G3V023_MOUSE
- ProteinNeuregulin 3
- GeneNrg3
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids689 (go to sequence)
- Protein existenceInferred from homology
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs224701101 | 146 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000080.7:g.39194321G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.39194321G>A Locations: - p.Ala146Val (Ensembl:ENSMUST00000173780) - c.437C>T (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs3389302760 | 173 | V>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000080.7:g.39194240A>T Codon: GTT/GAT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.39194240A>T Locations: - p.Val173Asp (Ensembl:ENSMUST00000173780) - c.518T>A (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs255715899 | 250 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000080.7:g.39194009G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.39194009G>A Locations: - p.Ala250Val (Ensembl:ENSMUST00000173780) - c.749C>T (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs3389315319 | 338 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000080.7:g.38390195T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.38390195T>A Locations: - p.Asp338Val (Ensembl:ENSMUST00000173780) - c.1013A>T (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs3389285526 | 357 | D>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000080.7:g.38129165C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.38129165C>G Locations: - p.Asp357His (Ensembl:ENSMUST00000173780) - c.1069G>C (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs3389285526 | 357 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000080.7:g.38129165C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.38129165C>A Locations: - p.Asp357Tyr (Ensembl:ENSMUST00000173780) - c.1069G>T (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs3389302774 | 370 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000080.7:g.38129125A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.38129125A>G Locations: - p.Ile370Thr (Ensembl:ENSMUST00000173780) - c.1109T>C (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs247821864 | 406 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.37) Somatic: No Accession: NC_000080.7:g.38119254T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.38119254T>C Locations: - p.Asn406Ser (Ensembl:ENSMUST00000173780) - c.1217A>G (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs579962819 | 412 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000080.7:g.38119237A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.38119237A>G Locations: - p.Ser412Pro (Ensembl:ENSMUST00000173780) - c.1234T>C (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs3389245533 | 458 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000080.7:g.38103620G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.38103620G>A Locations: - p.Thr458Ile (Ensembl:ENSMUST00000173780) - c.1373C>T (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs3389315365 | 489 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000080.7:g.38098388G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.38098388G>C Locations: - p.Pro489Ala (Ensembl:ENSMUST00000173780) - c.1465C>G (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs3389302770 | 515 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000080.7:g.38098309T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.38098309T>A Locations: - p.Asp515Val (Ensembl:ENSMUST00000173780) - c.1544A>T (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs3551020233 | 519 | C>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000080.7:g.38098297C>A Codon: TGC/TTC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.38098297C>A Locations: - p.Cys519Phe (Ensembl:ENSMUST00000173780) - c.1556G>T (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs3389325774 | 524 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000080.7:g.38092989G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.38092989G>A Locations: - p.Ser524Phe (Ensembl:ENSMUST00000173780) - c.1571C>T (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs3389318994 | 532 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000080.7:g.38092965T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.38092965T>A Locations: - p.Asn532Ile (Ensembl:ENSMUST00000173780) - c.1595A>T (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs3389323757 | 545 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000080.7:g.38092925G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.38092925G>T Locations: - p.Asn545Lys (Ensembl:ENSMUST00000173780) - c.1635C>A (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs3389316460 | 549 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000080.7:g.38092914T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.38092914T>A Locations: - p.Asn549Ile (Ensembl:ENSMUST00000173780) - c.1646A>T (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs3389292395 | 553 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000080.7:g.38092903G>T Codon: CAA/AAA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.38092903G>T Locations: - p.Gln553Lys (Ensembl:ENSMUST00000173780) - c.1657C>A (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs3389321177 | 567 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000080.7:g.38092861C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.38092861C>T Locations: - p.Val567Met (Ensembl:ENSMUST00000173780) - c.1699G>A (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs3389245558 | 590 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.54) Somatic: No Accession: NC_000080.7:g.38092792T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.38092792T>C Locations: - p.Ser590Gly (Ensembl:ENSMUST00000173780) - c.1768A>G (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs3389245527 | 595 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000080.7:g.38092776T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.38092776T>C Locations: - p.Lys595Arg (Ensembl:ENSMUST00000173780) - c.1784A>G (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs3389315212 | 600 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000080.7:g.38092762C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.38092762C>T Locations: - p.Ala600Thr (Ensembl:ENSMUST00000173780) - c.1798G>A (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs3389285413 | 633 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000080.7:g.38092662A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.38092662A>G Locations: - p.Ile633Thr (Ensembl:ENSMUST00000173780) - c.1898T>C (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs3389335955 | 647 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000080.7:g.38092620C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.38092620C>A Locations: - p.Ser647Ile (Ensembl:ENSMUST00000173780) - c.1940G>T (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: | |||||||
rs238918000 | 666 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000080.7:g.38092563G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.38092563G>A Locations: - p.Thr666Met (Ensembl:ENSMUST00000173780) - c.1997C>T (Ensembl:ENSMUST00000173780) Source type: large scale study Cross-references: |