AKR1B1 c.863C>T ;(p.T288I)

Variant ID: 7-134130035-G-A

NM_001628.2(AKR1B1):c.863C>T;(p.T288I)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Variability of the Genes Involved in the Cellular Redox Status and Their Implication in Drug Hypersensitivity Reactions.

Antioxidants (Basel, Switzerland)
Ayuso, Pedro P; García-Martín, Elena E; Agúndez, José A G JAG
Publication Date: 2021-02-15

Variant appearance in text: rs5062
PubMed Link: 33672092
Variant Present in the following documents:
  • Main text
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: AKR1B1: T288I
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs5062
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: AKR1B1: T288I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page