PLEKHM3 c.767C>T ;(p.T256M)

Variant ID: 2-208842154-G-A

NM_001080475.2(PLEKHM3):c.767C>T;(p.T256M)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: PLEKHM3: 767C>T
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes.

Scientific Reports
Helgadottir, Hafdis T HT; Thutkawkorapin, Jessada J; Lagerstedt-Robinson, Kristina K; Lindblom, Annika A
Publication Date: 2021-07-19

Variant appearance in text: PLEKHM3: T256M; rs71418661
PubMed Link: 34282249
Variant Present in the following documents:
  • 41598_2021_94316_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: PLEKHM3: T256M
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth.

Oncotarget
Anastasaki, Corina C; Dahiya, Sonika S; Gutmann, David H DH
Publication Date: 2017-07-18

Variant appearance in text: PLEKHM3: T256M; rs71418661
PubMed Link: 28548933
Variant Present in the following documents:
  • oncotarget-08-47574-s002.xlsx, sheet 1
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: PLEKHM3: T256M
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page