PTEN c.424_426delinsTGT ;(p.R142C)

Variant ID: 10-89692940-CGG-TGT

NM_000314.4(PTEN):c.424_426delinsTGT;(p.R142C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrative Genomic Analyses of Patient-Matched Intracranial and Extracranial Metastases Reveal a Novel Brain-Specific Landscape of Genetic Variants in Driver Genes of Malignant Melanoma.

Cancers
Váraljai, Renáta R; Horn, Susanne S; Sucker, Antje A; Piercianek, Daniela D; Schmitt, Verena V; Carpinteiro, Alexander A; Becker, Katrin Anne KA; Reifenberger, Julia J; Roesch, Alexander A; Felsberg, Joerg J; Reifenberger, Guido G; Sure, Ulrich U; Schadendorf, Dirk D; Helfrich, Iris I
Publication Date: 2021-02-10

Variant appearance in text: PTEN: R142C
PubMed Link: 33578810
Variant Present in the following documents:
  • Main text
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: PTEN: R142C
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page