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TTN c.242A>G ;(p.K81R)
Variant ID: 2-179666918-T-C
NM_001267550.1(
TTN
):c.242A>G;(p.K81R)
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:
Combating acquired resistance to MAPK inhibitors in melanoma by targeting Abl1/2-mediated reactivation of MEK/ERK/MYC signaling.
Nature Communications
Tripathi, Rakshamani R; Liu, Zulong Z; Jain, Aditi A; Lyon, Anastasia A; Meeks, Christina C; Richards, Dana D; Liu, Jinpeng J; He, Daheng D; Wang, Chi C; Nespi, Marika M; Rymar, Andrey A; Wang, Peng P; Wilson, Melissa M; Plattner, Rina R
Publication Date: 2020-10-29
Variant appearance in text: TTN: 242A>G; K81R
PubMed Link:
33122628
Variant Present in the following documents:
41467_2020_19075_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.
European Journal Of Human Genetics : Ejhg
Marconi, Caterina C; Brunamonti Binello, Paolo P; Badiali, Giovanni G; Caci, Emanuela E; Cusano, Roberto R; Garibaldi, Joseph J; Pippucci, Tommaso T; Merlini, Alberto A; Marchetti, Claudio C; Rhoden, Kerry J KJ; Galietta, Luis J V LJ; Lalatta, Faustina F; Balbi, Paolo P; Seri, Marco M
Publication Date: 2013-06
Variant appearance in text: TMD: 242A>G
PubMed Link:
23047743
Variant Present in the following documents:
Main text
View BVdb publication page