PTEN c.432A>C ;(p.K144N)

Variant ID: 10-89692948-A-C

NM_000314.4(PTEN):c.432A>C;(p.K144N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material.

Bmc Cancer
Steeghs, Elisabeth M P EMP; Kroeze, Leonie I LI; Tops, Bastiaan B J BBJ; van Kempen, Leon C LC; Ter Elst, Arja A; Kastner-van Raaij, Annemiek W M AWM; Hendriks-Cornelissen, Sandra J B SJB; Hermsen, Mandy J W MJW; Jansen, Erik A M EAM; Nederlof, Petra M PM; Schuuring, Ed E; Ligtenberg, Marjolijn J L MJL; Eijkelenboom, Astrid A
Publication Date: 2020-04-07

Variant appearance in text: PTEN: 432A>C; Lys144Asn
PubMed Link: 32264863
Variant Present in the following documents:
  • 12885_2020_6785_MOESM2_ESM.xlsx, sheet 7
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: K144N
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



TP53 and RET may serve as biomarkers of prognostic evaluation and targeted therapy in hepatocellular carcinoma.

Oncology Reports
Ye, Song S; Zhao, Xin-Yi XY; Hu, Xiao-Ge XG; Li, Tang T; Xu, Qiu-Ran QR; Yang, Huan-Ming HM; Huang, Dong-Sheng DS; Yang, Liu L
Publication Date: 2017-04

Variant appearance in text: PTEN: K144N
PubMed Link: 28350084
Variant Present in the following documents:
  • Main text
  • or-37-04-2215.pdf
View BVdb publication page