TSC2 c.415_416inv ;(p.R139L)

Variant ID: 16-2104375-AG-CT

NM_000548.3(TSC2):c.415_416inv;(p.R139L)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Mechanisms for mTORC1 activation and synergistic induction of apoptosis by ruxolitinib and BH3 mimetics or autophagy inhibitors in JAK2-V617F-expressing leukemic cells including newly established PVTL-2.

Oncotarget
Ishida, Shinya S; Akiyama, Hiroki H; Umezawa, Yoshihiro Y; Okada, Keigo K; Nogami, Ayako A; Oshikawa, Gaku G; Nagao, Toshikage T; Miura, Osamu O
Publication Date: 2018-06-01

Variant appearance in text: TSC2: R139L
PubMed Link: 29928488
Variant Present in the following documents:
  • Main text
View BVdb publication page