TP53 c.617T>G ;(p.L206W)

Variant ID: 17-7578232-A-C

NM_000546.5(TP53):c.617T>G;(p.L206W)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Distinct proteostasis states drive pharmacologic chaperone susceptibility for cystic fibrosis transmembrane conductance regulator misfolding mutants.

Molecular Biology Of The Cell
McDonald, Eli Fritz EF; Sabusap, Carleen Mae P CMP; Kim, Minsoo M; Plate, Lars L
Publication Date: 2022-06-01

Variant appearance in text: TP53: L206W
PubMed Link: 35389766
Variant Present in the following documents:
  • mbc-33-ar62-s005.xlsx, sheet 4
  • mbc-33-ar62-s004.xlsx, sheet 1
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: TP53: L206W
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
View BVdb publication page



Upregulation of Bcl-2 in nasal polyps from patients with cystic fibrosis.

International Forum Of Allergy & Rhinology
Scapa, Victor I VI; Ramakrishnan, Vijay R VR; Kingdom, Todd T TT
Publication Date: 2013-03

Variant appearance in text: p53: L206W
PubMed Link: 23135964
Variant Present in the following documents:
  • Main text
  • ALR-3-199.pdf
View BVdb publication page