TSC2 c.3142G>T ;(p.G1048C)

Variant ID: 16-2129287-G-T

NM_000548.3(TSC2):c.3142G>T;(p.G1048C)

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:

Sirolimus and Everolimus Pathway: Reviewing Candidate Genes Influencing Their Intracellular Effects.

International Journal Of Molecular Sciences
Granata, Simona S; Dalla Gassa, Alessandra A; Carraro, Amedeo A; Brunelli, Matteo M; Stallone, Giovanni G; Lupo, Antonio A; Zaza, Gianluigi G
Publication Date: 2016-05-14

Variant appearance in text: TSC2: G1048C
PubMed Link: 27187382
Variant Present in the following documents:
  • Main text
  • ijms-17-00735.pdf
View BVdb publication page