PTEN c.238A>T ;(p.K80*)

Variant ID: 10-89690831-A-T

NM_000314.4(PTEN):c.238A>T;(p.K80*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: rs786204925
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 6
View BVdb publication page



Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology
Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X
Publication Date: 2021

Variant appearance in text: PTEN: 238A>T; K80*
PubMed Link: 35087742
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: PTEN: 238A>T; K80*
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Somatic mutation profiling in BRCA-negative breast and ovarian cancer patients by multigene panel sequencing.

American Journal Of Cancer Research
Kwong, Ava A; Cheuk, Isabella Wy IW; Shin, Vivian Yvonne VY; Ho, Cecilia Ys CY; Au, Chun-Hang CH; Ho, Dona Ny DN; Wong, Elaine Yl EY; Yu, Stephanie Wy SW; Chen, Jiawei J; Chan, Karen Kl KK; Ngan, Hextan Ys HY; Chan, Tsun-Leung TL; Ma, Edmond Sk ES
Publication Date: 2020

Variant appearance in text: PTEN: 238A>T; Lys80Ter
PubMed Link: 33042626
Variant Present in the following documents:
  • Main text
View BVdb publication page



A mechanistic integrative computational model of macrophage polarization: Implications in human pathophysiology.

Plos Computational Biology
Zhao, Chen C; Mirando, Adam C AC; Sové, Richard J RJ; Medeiros, Thalyta X TX; Annex, Brian H BH; Popel, Aleksander S AS
Publication Date: 2019-11

Variant appearance in text: PTEN: k80*
PubMed Link: 31738746
Variant Present in the following documents:
  • pcbi.1007468.s010.pdf
  • pcbi.1007468.s001.pdf
View BVdb publication page



KLLN epigenotype-phenotype associations in Cowden syndrome.

European Journal Of Human Genetics : Ejhg
Nizialek, Emily A EA; Mester, Jessica L JL; Dhiman, Vineet K VK; Smiraglia, Dominic J DJ; Eng, Charis C
Publication Date: 2015-11

Variant appearance in text: PTEN: 238A>T; Lys80Ter
PubMed Link: 25669429
Variant Present in the following documents:
View BVdb publication page



Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Ngeow, Joanne J; Stanuch, Kim K; Mester, Jessica L JL; Barnholtz-Sloan, Jill S JS; Eng, Charis C
Publication Date: 2014-06-10

Variant appearance in text: PTEN: 238A>T; Lys80Ter
PubMed Link: 24778394
Variant Present in the following documents:
  • Main text
View BVdb publication page