Q12280 · IQG1_YEAST
- ProteinRas GTPase-activating-like protein IQG1
- GeneIQG1
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids1495 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
s16-94922 | 63 | S>F | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.37) Somatic: No Accession: XVI:g.94922G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: Genomic location: XVI:g.94922G>A Locations: - p.Ser63Phe (Ensembl:YPL242C_mRNA) - c.188C>T (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-94922 | |||||||
s16-94919 | 64 | A>E | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: XVI:g.94919G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: Genomic location: XVI:g.94919G>T Locations: - p.Ala64Glu (Ensembl:YPL242C_mRNA) - c.191C>A (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-94919 | |||||||
s16-94886 | 75 | V>A | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: XVI:g.94886A>G Codon: GTA/GCA Consequence type: missense Cytogenetic band: Genomic location: XVI:g.94886A>G Locations: - p.Val75Ala (Ensembl:YPL242C_mRNA) - c.224T>C (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-94886 | |||||||
s16-94368 | 248 | A>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.87) Somatic: No Accession: XVI:g.94368C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: Genomic location: XVI:g.94368C>T Locations: - p.Ala248Thr (Ensembl:YPL242C_mRNA) - c.742G>A (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-94368 | |||||||
s16-94218 | 298 | I>V | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.64) Somatic: No Accession: XVI:g.94218T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: Genomic location: XVI:g.94218T>C Locations: - p.Ile298Val (Ensembl:YPL242C_mRNA) - c.892A>G (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-94218 | |||||||
s16-94145 | 322 | A>V | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: XVI:g.94145G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: Genomic location: XVI:g.94145G>A Locations: - p.Ala322Val (Ensembl:YPL242C_mRNA) - c.965C>T (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-94145 | |||||||
s16-94134 | 326 | S>P | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: XVI:g.94134A>G Codon: TCA/CCA Consequence type: missense Cytogenetic band: Genomic location: XVI:g.94134A>G Locations: - p.Ser326Pro (Ensembl:YPL242C_mRNA) - c.976T>C (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-94134 | |||||||
s16-93971 | 380 | T>R | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.73) Somatic: No Accession: XVI:g.93971G>C Codon: ACG/AGG Consequence type: missense Cytogenetic band: Genomic location: XVI:g.93971G>C Locations: - p.Thr380Arg (Ensembl:YPL242C_mRNA) - c.1139C>G (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-93971 | |||||||
s16-93959 | 384 | R>H | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: XVI:g.93959C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: Genomic location: XVI:g.93959C>T Locations: - p.Arg384His (Ensembl:YPL242C_mRNA) - c.1151G>A (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-93959 | |||||||
s16-93759 | 451 | L>V | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.68) Somatic: No Accession: XVI:g.93759G>C Codon: CTA/GTA Consequence type: missense Cytogenetic band: Genomic location: XVI:g.93759G>C Locations: - p.Leu451Val (Ensembl:YPL242C_mRNA) - c.1351C>G (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-93759 | |||||||
s16-93740 | 457 | L>Q | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: XVI:g.93740A>T Codon: CTA/CAA Consequence type: missense Cytogenetic band: Genomic location: XVI:g.93740A>T Locations: - p.Leu457Gln (Ensembl:YPL242C_mRNA) - c.1370T>A (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-93740 | |||||||
s16-93641 | 490 | K>M | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: XVI:g.93641T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: Genomic location: XVI:g.93641T>A Locations: - p.Lys490Met (Ensembl:YPL242C_mRNA) - c.1469A>T (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-93641 | |||||||
s16-93137 | 658 | N>I | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: XVI:g.93137T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: Genomic location: XVI:g.93137T>A Locations: - p.Asn658Ile (Ensembl:YPL242C_mRNA) - c.1973A>T (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-93137 | |||||||
s16-93103 | 669 | L>F | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.7) Somatic: No Accession: XVI:g.93103C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: Genomic location: XVI:g.93103C>A Locations: - p.Leu669Phe (Ensembl:YPL242C_mRNA) - c.2007G>T (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-93103 | |||||||
s16-93017 | 698 | S>F | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: XVI:g.93017G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: Genomic location: XVI:g.93017G>A Locations: - p.Ser698Phe (Ensembl:YPL242C_mRNA) - c.2093C>T (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-93017 | |||||||
s16-92966 | 715 | K>R | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.84) Somatic: No Accession: XVI:g.92966T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: Genomic location: XVI:g.92966T>C Locations: - p.Lys715Arg (Ensembl:YPL242C_mRNA) - c.2144A>G (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-92966 | |||||||
s16-92234 | 959 | H>R | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.67) Somatic: No Accession: XVI:g.92234T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: Genomic location: XVI:g.92234T>C Locations: - p.His959Arg (Ensembl:YPL242C_mRNA) - c.2876A>G (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-92234 | |||||||
s16-92123 | 996 | T>I | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: XVI:g.92123G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: Genomic location: XVI:g.92123G>A Locations: - p.Thr996Ile (Ensembl:YPL242C_mRNA) - c.2987C>T (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-92123 | |||||||
s16-92034 | 1026 | I>L | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: XVI:g.92034T>G Codon: ATA/CTA Consequence type: missense Cytogenetic band: Genomic location: XVI:g.92034T>G Locations: - p.Ile1026Leu (Ensembl:YPL242C_mRNA) - c.3076A>C (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-92034 | |||||||
s16-91627 | 1161 | D>E | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: XVI:g.91627G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: Genomic location: XVI:g.91627G>T Locations: - p.Asp1161Glu (Ensembl:YPL242C_mRNA) - c.3483C>A (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-91627 | |||||||
s16-91221 | 1297 | A>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: XVI:g.91221C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: Genomic location: XVI:g.91221C>A Locations: - p.Ala1297Ser (Ensembl:YPL242C_mRNA) - c.3889G>T (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-91221 | |||||||
s16-91194 | 1306 | Y>H | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: XVI:g.91194A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: Genomic location: XVI:g.91194A>G Locations: - p.Tyr1306His (Ensembl:YPL242C_mRNA) - c.3916T>C (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-91194 | |||||||
s16-91004 | 1369 | R>H | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: XVI:g.91004C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: Genomic location: XVI:g.91004C>T Locations: - p.Arg1369His (Ensembl:YPL242C_mRNA) - c.4106G>A (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-91004 | |||||||
s16-90983 | 1376 | K>R | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: XVI:g.90983T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: Genomic location: XVI:g.90983T>C Locations: - p.Lys1376Arg (Ensembl:YPL242C_mRNA) - c.4127A>G (Ensembl:YPL242C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-90983 |