Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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