Q9FYL8 · NFD2_ARATH
- ProteinProtein NUCLEAR FUSION DEFECTIVE 2
- GeneNFD2
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids191 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
tmp_1_8664204_G_A | 2 | A>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: 1:g.8664204G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: Genomic location: 1:g.8664204G>A Locations: - p.Ala2Thr (EnsemblPlants:AT1G24450.1) - c.4G>A (EnsemblPlants:AT1G24450.1) Source type: large scale study Cross-references: | |||||||
ENSVATH11979771 | 11 | L>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.37) Somatic: No Accession: 1:g.8664231C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: Genomic location: 1:g.8664231C>T Locations: - p.Leu11Phe (EnsemblPlants:AT1G24450.1) - c.31C>T (EnsemblPlants:AT1G24450.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04637079 | 34 | N>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.93) Somatic: No Accession: 1:g.8664398A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: Genomic location: 1:g.8664398A>G Locations: - p.Asn34Ser (EnsemblPlants:AT1G24450.1) - c.101A>G (EnsemblPlants:AT1G24450.1) Source type: large scale study Cross-references: | |||||||
tmp_1_8664409_G_A | 38 | E>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 1:g.8664409G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: Genomic location: 1:g.8664409G>A Locations: - p.Glu38Lys (EnsemblPlants:AT1G24450.1) - c.112G>A (EnsemblPlants:AT1G24450.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04637080 | 40 | F>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.84) Somatic: No Accession: 1:g.8664415T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: Genomic location: 1:g.8664415T>C Locations: - p.Phe40Leu (EnsemblPlants:AT1G24450.1) - c.118T>C (EnsemblPlants:AT1G24450.1) Source type: large scale study Cross-references: | |||||||
ENSVATH01099554 | 41 | S>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: 1:g.8664419C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: Genomic location: 1:g.8664419C>T Locations: - p.Ser41Phe (EnsemblPlants:AT1G24450.1) - c.122C>T (EnsemblPlants:AT1G24450.1) Source type: large scale study Cross-references: | |||||||
ENSVATH11979816 | 47 | D>Y | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: 1:g.8664436G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.8664436G>T Locations: - p.Asp47Tyr (EnsemblPlants:AT1G24450.1) - c.139G>T (EnsemblPlants:AT1G24450.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00042657 | 50 | K>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 1:g.8664446A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: Genomic location: 1:g.8664446A>C Locations: - p.Lys50Thr (EnsemblPlants:AT1G24450.1) - c.149A>C (EnsemblPlants:AT1G24450.1) Source type: large scale study Cross-references: | |||||||
tmp_1_8664674_A_T | 58 | K>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: 1:g.8664674A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: Genomic location: 1:g.8664674A>T Locations: - p.Lys58Met (EnsemblPlants:AT1G24450.1) - c.173A>T (EnsemblPlants:AT1G24450.1) Source type: large scale study Cross-references: | |||||||
ENSVATH11979818 | 60 | N>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: 1:g.8664680A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: Genomic location: 1:g.8664680A>G Locations: - p.Asn60Ser (EnsemblPlants:AT1G24450.1) - c.179A>G (EnsemblPlants:AT1G24450.1) Source type: large scale study Cross-references: | |||||||
tmp_1_8664691_C_T | 64 | L>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: 1:g.8664691C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: Genomic location: 1:g.8664691C>T Locations: - p.Leu64Phe (EnsemblPlants:AT1G24450.1) - c.190C>T (EnsemblPlants:AT1G24450.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04637088 | 71 | H>Q | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 1:g.8664714T>A Codon: CAT/CAA Consequence type: missense Cytogenetic band: Genomic location: 1:g.8664714T>A Locations: - p.His71Gln (EnsemblPlants:AT1G24450.1) - c.213T>A (EnsemblPlants:AT1G24450.1) Source type: large scale study Cross-references: | |||||||
tmp_1_8664742_G_C | 81 | A>P | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 1:g.8664742G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: Genomic location: 1:g.8664742G>C Locations: - p.Ala81Pro (EnsemblPlants:AT1G24450.1) - c.241G>C (EnsemblPlants:AT1G24450.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00042658 | 84 | I>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.8664752T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: Genomic location: 1:g.8664752T>C Locations: - p.Ile84Thr (EnsemblPlants:AT1G24450.1) - c.251T>C (EnsemblPlants:AT1G24450.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04637089 | 84 | I>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: 1:g.8664751A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: Genomic location: 1:g.8664751A>G Locations: - p.Ile84Val (EnsemblPlants:AT1G24450.1) - c.250A>G (EnsemblPlants:AT1G24450.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04637090 | 91 | E>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 1:g.8664773A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: Genomic location: 1:g.8664773A>C Locations: - p.Glu91Ala (EnsemblPlants:AT1G24450.1) - c.272A>C (EnsemblPlants:AT1G24450.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04637091 | 92 | T>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: 1:g.8664775A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: Genomic location: 1:g.8664775A>G Locations: - p.Thr92Ala (EnsemblPlants:AT1G24450.1) - c.274A>G (EnsemblPlants:AT1G24450.1) Source type: large scale study Cross-references: | |||||||
ENSVATH13962238 | 104 | D>H | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.8664811G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.8664811G>C Locations: - p.Asp104His (EnsemblPlants:AT1G24450.1) - c.310G>C (EnsemblPlants:AT1G24450.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04637092 | 106 | S>Y | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.8664818C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: Genomic location: 1:g.8664818C>A Locations: - p.Ser106Tyr (EnsemblPlants:AT1G24450.1) - c.317C>A (EnsemblPlants:AT1G24450.1) Source type: large scale study Cross-references: | |||||||
ENSVATH11979820 | 138 | R>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.8664915A>T Codon: AGA/AGT Consequence type: missense Cytogenetic band: Genomic location: 1:g.8664915A>T Locations: - p.Arg138Ser (EnsemblPlants:AT1G24450.1) - c.414A>T (EnsemblPlants:AT1G24450.1) Source type: large scale study Cross-references: | |||||||
ENSVATH13962239 | 141 | T>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: 1:g.8664923C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: Genomic location: 1:g.8664923C>T Locations: - p.Thr141Ile (EnsemblPlants:AT1G24450.1) - c.422C>T (EnsemblPlants:AT1G24450.1) Source type: large scale study Cross-references: | |||||||
ENSVATH11979821 | 144 | D>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: 1:g.8664933T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: Genomic location: 1:g.8664933T>G Locations: - p.Asp144Glu (EnsemblPlants:AT1G24450.1) - c.432T>G (EnsemblPlants:AT1G24450.1) Source type: large scale study Cross-references: | |||||||
ENSVATH11979890 | 189 | S>P | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: 1:g.8665066T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: Genomic location: 1:g.8665066T>C Locations: - p.Ser189Pro (EnsemblPlants:AT1G24450.1) - c.565T>C (EnsemblPlants:AT1G24450.1) Source type: large scale study Cross-references: |