PLEKHG5 c.307G>T ;(p.V103L)

Variant ID: 1-6534643-C-A

NM_020631.4(PLEKHG5):c.307G>T;(p.V103L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.

International Journal Of Molecular Sciences
Scarlino, Stefania S; Domi, Teuta T; Pozzi, Laura L; Romano, Alessandro A; Pipitone, Giovanni Battista GB; Falzone, Yuri Matteo YM; Mosca, Lorena L; Penco, Silvana S; Lunetta, Christian C; Sansone, Valeria V; Tremolizzo, Lucio L; Fazio, Raffaella R; Agosta, Federica F; Filippi, Massimo M; Carrera, Paola P; Riva, Nilo N; Quattrini, Angelo A
Publication Date: 2020-05-08

Variant appearance in text: rs141032388
PubMed Link: 32397312
Variant Present in the following documents:
  • ijms-21-03346-s001.pdf
View BVdb publication page



The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Oncotarget
Muscat, Andrea M AM; Wong, Nicholas C NC; Drummond, Katharine J KJ; Algar, Elizabeth M EM; Khasraw, Mustafa M; Verhaak, Roel R; Field, Kathryn K; Rosenthal, Mark A MA; Ashley, David M DM
Publication Date: 2018-01-30

Variant appearance in text: rs141032388
PubMed Link: 29487696
Variant Present in the following documents:
  • oncotarget-09-7844-s003.xlsx, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs141032388
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page