PC c.61_62delinsCT ;(p.T21L)

Variant ID: 11-66639569-GT-AG

NM_001040716.1(PC):c.61_62delinsCT;(p.T21L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling.

Molecular Biology Of The Cell
Amick, Joseph J; Roczniak-Ferguson, Agnes A; Ferguson, Shawn M SM
Publication Date: 2016-10-15

Variant appearance in text: PC: T21L
PubMed Link: 27559131
Variant Present in the following documents:
  • 3040.pdf
View BVdb publication page



Amino acids activate mammalian target of rapamycin (mTOR) complex 1 without changing Rag GTPase guanyl nucleotide charging.

The Journal Of Biological Chemistry
Oshiro, Noriko N; Rapley, Joseph J; Avruch, Joseph J
Publication Date: 2014-01-31

Variant appearance in text: PC: T21L
PubMed Link: 24337580
Variant Present in the following documents:
  • Main text
  • zbc2658.pdf
View BVdb publication page