P37020 · GEF1_YEAST
- ProteinAnion/proton exchange transporter GEF1
- GeneGEF1
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids779 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
s10-507775 | 13 | G>R | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.39) Somatic: No Accession: X:g.507782G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: Genomic location: X:g.507782G>A Locations: - p.Gly13Arg (Ensembl:YJR040W_mRNA) - c.37G>A (Ensembl:YJR040W_mRNA) Source type: large scale study Cross-references: - SGRP: s10-507775 | |||||||
s10-508230 | 164 | L>F | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: X:g.508237G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: Genomic location: X:g.508237G>T Locations: - p.Leu164Phe (Ensembl:YJR040W_mRNA) - c.492G>T (Ensembl:YJR040W_mRNA) Source type: large scale study Cross-references: - SGRP: s10-508230 | |||||||
s10-508320 | 194 | W>C | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: X:g.508327G>C Codon: TGG/TGC Consequence type: missense Cytogenetic band: Genomic location: X:g.508327G>C Locations: - p.Trp194Cys (Ensembl:YJR040W_mRNA) - c.582G>C (Ensembl:YJR040W_mRNA) Source type: large scale study Cross-references: - SGRP: s10-508320 | |||||||
s10-508359 | 207 | F>L | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.83) Somatic: No Accession: X:g.508366C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: Genomic location: X:g.508366C>G Locations: - p.Phe207Leu (Ensembl:YJR040W_mRNA) - c.621C>G (Ensembl:YJR040W_mRNA) Source type: large scale study Cross-references: - SGRP: s10-508359 | |||||||
s10-508507 | 257 | S>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: X:g.508514T>A Codon: TCG/ACG Consequence type: missense Cytogenetic band: Genomic location: X:g.508514T>A Locations: - p.Ser257Thr (Ensembl:YJR040W_mRNA) - c.769T>A (Ensembl:YJR040W_mRNA) Source type: large scale study Cross-references: - SGRP: s10-508507 | |||||||
s10-508522 | 262 | I>L | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: X:g.508529A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: Genomic location: X:g.508529A>C Locations: - p.Ile262Leu (Ensembl:YJR040W_mRNA) - c.784A>C (Ensembl:YJR040W_mRNA) Source type: large scale study Cross-references: - SGRP: s10-508522 | |||||||
s10-509063 | 442 | T>I | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.6) Somatic: No Accession: X:g.509070C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: Genomic location: X:g.509070C>T Locations: - p.Thr442Ile (Ensembl:YJR040W_mRNA) - c.1325C>T (Ensembl:YJR040W_mRNA) Source type: large scale study Cross-references: - SGRP: s10-509063 | |||||||
s10-509228 | 497 | T>I | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.37) Somatic: No Accession: X:g.509235C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: Genomic location: X:g.509235C>T Locations: - p.Thr497Ile (Ensembl:YJR040W_mRNA) - c.1490C>T (Ensembl:YJR040W_mRNA) Source type: large scale study Cross-references: - SGRP: s10-509228 | |||||||
s10-509818 | 694 | S>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: X:g.509825T>A Codon: TCG/ACG Consequence type: missense Cytogenetic band: Genomic location: X:g.509825T>A Locations: - p.Ser694Thr (Ensembl:YJR040W_mRNA) - c.2080T>A (Ensembl:YJR040W_mRNA) Source type: large scale study Cross-references: - SGRP: s10-509818 | |||||||
s10-510037 | 767 | I>V | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: X:g.510044A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: Genomic location: X:g.510044A>G Locations: - p.Ile767Val (Ensembl:YJR040W_mRNA) - c.2299A>G (Ensembl:YJR040W_mRNA) Source type: large scale study Cross-references: - SGRP: s10-510037 | |||||||
s10-510041 | 768 | K>R | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.63) Somatic: No Accession: X:g.510048A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: Genomic location: X:g.510048A>G Locations: - p.Lys768Arg (Ensembl:YJR040W_mRNA) - c.2303A>G (Ensembl:YJR040W_mRNA) Source type: large scale study Cross-references: - SGRP: s10-510041 |