Q06833 · NVJ2_YEAST
- ProteinNucleus-vacuole junction protein 2
- GeneNVJ2
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids770 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
s16-718439 | 10 | V>F | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: XVI:g.718441C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: Genomic location: XVI:g.718441C>A Locations: - p.Val10Phe (Ensembl:YPR091C_mRNA) - c.28G>T (Ensembl:YPR091C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-718439 | |||||||
s16-718421 | 16 | I>V | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.78) Somatic: No Accession: XVI:g.718423T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: Genomic location: XVI:g.718423T>C Locations: - p.Ile16Val (Ensembl:YPR091C_mRNA) - c.46A>G (Ensembl:YPR091C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-718421 | |||||||
s16-718394 | 25 | T>A | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.49) Somatic: No Accession: XVI:g.718396T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: Genomic location: XVI:g.718396T>C Locations: - p.Thr25Ala (Ensembl:YPR091C_mRNA) - c.73A>G (Ensembl:YPR091C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-718394 | |||||||
s16-718259 | 70 | R>G | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: XVI:g.718261G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: Genomic location: XVI:g.718261G>C Locations: - p.Arg70Gly (Ensembl:YPR091C_mRNA) - c.208C>G (Ensembl:YPR091C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-718259 | |||||||
s16-718222 | 82 | N>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: XVI:g.718224T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: Genomic location: XVI:g.718224T>C Locations: - p.Asn82Ser (Ensembl:YPR091C_mRNA) - c.245A>G (Ensembl:YPR091C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-718222 | |||||||
s16-717950 | 173 | L>M | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: XVI:g.717952G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: Genomic location: XVI:g.717952G>T Locations: - p.Leu173Met (Ensembl:YPR091C_mRNA) - c.517C>A (Ensembl:YPR091C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-717950 | |||||||
s16-717802 | 222 | N>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.55) Somatic: No Accession: XVI:g.717804T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: Genomic location: XVI:g.717804T>C Locations: - p.Asn222Ser (Ensembl:YPR091C_mRNA) - c.665A>G (Ensembl:YPR091C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-717802 | |||||||
s16-717701 | 256 | D>Y | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: XVI:g.717703C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: Genomic location: XVI:g.717703C>A Locations: - p.Asp256Tyr (Ensembl:YPR091C_mRNA) - c.766G>T (Ensembl:YPR091C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-717701 | |||||||
s16-717290 | 393 | T>A | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: XVI:g.717292T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: Genomic location: XVI:g.717292T>C Locations: - p.Thr393Ala (Ensembl:YPR091C_mRNA) - c.1177A>G (Ensembl:YPR091C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-717290 | |||||||
s16-717247 | 407 | R>H | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.54) Somatic: No Accession: XVI:g.717249C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: Genomic location: XVI:g.717249C>T Locations: - p.Arg407His (Ensembl:YPR091C_mRNA) - c.1220G>A (Ensembl:YPR091C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-717247 | |||||||
s16-717037 | 477 | A>V | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: XVI:g.717039G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Genomic location: XVI:g.717039G>A Locations: - p.Ala477Val (Ensembl:YPR091C_mRNA) - c.1430C>T (Ensembl:YPR091C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-717037 | |||||||
s16-716824 | 548 | S>I | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: XVI:g.716826C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: Genomic location: XVI:g.716826C>A Locations: - p.Ser548Ile (Ensembl:YPR091C_mRNA) - c.1643G>T (Ensembl:YPR091C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-716824 | |||||||
s16-716804 | 555 | R>G | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.38) Somatic: No Accession: XVI:g.716806T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: Genomic location: XVI:g.716806T>C Locations: - p.Arg555Gly (Ensembl:YPR091C_mRNA) - c.1663A>G (Ensembl:YPR091C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-716804 | |||||||
s16-716552 | 639 | D>N | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.42) Somatic: No Accession: XVI:g.716554C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: Genomic location: XVI:g.716554C>T Locations: - p.Asp639Asn (Ensembl:YPR091C_mRNA) - c.1915G>A (Ensembl:YPR091C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-716552 | |||||||
s16-716401 | 689 | N>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.92) Somatic: No Accession: XVI:g.716403T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: Genomic location: XVI:g.716403T>C Locations: - p.Asn689Ser (Ensembl:YPR091C_mRNA) - c.2066A>G (Ensembl:YPR091C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-716401 |