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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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