TAS2R43 c.577C>A ;(p.L193I)

Variant ID: 12-11244252-G-T

NM_176884.2(TAS2R43):c.577C>A;(p.L193I)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: TAS2R43: L193I; rs202247625
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Breast carcinomas with osteoclast-like giant cells: a comprehensive clinico-pathological and molecular portrait and evidence of RANK-L expression.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Cyrta, Joanna J; Benoist, Camille C; Masliah-Planchon, Julien J; Vieira, Andre F AF; Pierron, Gaëlle G; Fuhrmann, Laetitia L; Richardot, Camille C; Caly, Martial M; Leclere, Renaud R; Mariani, Odette O; Da Maia, Elisabeth E; Larousserie, Frédérique F; Féron, Jean Guillaume JG; Carton, Matthieu M; Renault, Victor V; Bidard, François-Clément FC; Vincent-Salomon, Anne A
Publication Date: 2022-11

Variant appearance in text: TAS2R43: 577C>A; Leu193Ile
PubMed Link: 35697931
Variant Present in the following documents:
  • 41379_2022_1112_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page



Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.

Frontiers In Oncology
Butz, Henriett H; Lövey, József J; Szentkereszty, Márton M; Bozsik, Anikó A; Tóth, Erika E; Patócs, Attila A
Publication Date: 2022

Variant appearance in text: rs202247625
PubMed Link: 35419288
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



The Immune Landscape of Chinese Head and Neck Adenoid Cystic Carcinoma and Clinical Implication.

Frontiers In Immunology
Dou, Shengjin S; Li, Rongrong R; He, Ning N; Zhang, Menghuan M; Jiang, Wen W; Ye, Lulu L; Yang, Yining Y; Zhao, Guodong G; Yang, Yadong Y; Li, Jiang J; Chen, Di D; Zhu, Guopei G
Publication Date: 2021

Variant appearance in text: TAS2R43: 577C>A; Leu193Ile
PubMed Link: 34552580
Variant Present in the following documents:
  • DataSheet_3.xlsx, sheet 6
  • DataSheet_3.xlsx, sheet 2
View BVdb publication page



A Bitter Taste in Your Heart.

Frontiers In Physiology
Bloxham, Conor J CJ; Foster, Simon R SR; Thomas, Walter G WG
Publication Date: 2020

Variant appearance in text: TAS2R43: L193I; rs202247625
PubMed Link: 32457649
Variant Present in the following documents:
  • Main text
  • fphys-11-00431.pdf
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: TAS2R43: 577C>A; Leu193Ile; rs202247625
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Signaling pathway screening platforms are an efficient approach to identify therapeutic targets in cancers that lack known driver mutations: a case report for a cancer of unknown primary origin.

Npj Genomic Medicine
Torres-Ayuso, Pedro P; Sahoo, Sudhakar S; Ashton, Garry G; An, Elvira E; Simms, Nicole N; Galvin, Melanie M; Leong, Hui Sun HS; Frese, Kristopher K KK; Simpson, Kathryn K; Cook, Natalie N; Hughes, Andrew A; Miller, Crispin J CJ; Marais, Richard R; Dive, Caroline C; Krebs, Matthew G MG; Brognard, John J
Publication Date: 2018

Variant appearance in text: TAS2R43: L193I; rs202247625
PubMed Link: 29951225
Variant Present in the following documents:
  • 41525_2018_55_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Phylogenetic analysis of metastatic progression in breast cancer using somatic mutations and copy number aberrations.

Nature Communications
Brown, David D; Smeets, Dominiek D; Székely, Borbála B; Larsimont, Denis D; Szász, A Marcell AM; Adnet, Pierre-Yves PY; Rothé, Françoise F; Rouas, Ghizlane G; Nagy, Zsófia I ZI; Faragó, Zsófia Z; Tőkés, Anna-Mária AM; Dank, Magdolna M; Szentmártoni, Gyöngyvér G; Udvarhelyi, Nóra N; Zoppoli, Gabriele G; Pusztai, Lajos L; Piccart, Martine M; Kulka, Janina J; Lambrechts, Diether D; Sotiriou, Christos C; Desmedt, Christine C
Publication Date: 2017-04-20

Variant appearance in text: TAS2R43: L193I
PubMed Link: 28429735
Variant Present in the following documents:
  • ncomms14944-s4.xlsx, sheet 3
  • ncomms14944-s4.xlsx, sheet 7
View BVdb publication page



NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.

The Journal Of Investigative Dermatology
South, Andrew P AP; Purdie, Karin J KJ; Watt, Stephen A SA; Haldenby, Sam S; den Breems, Nicoline N; Dimon, Michelle M; Arron, Sarah T ST; Kluk, Michael J MJ; Aster, Jon C JC; McHugh, Angela A; Xue, Dylan J DJ; Dayal, Jasbani Hs JH; Robinson, Kim S KS; Rizvi, Sm Hasan SH; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM
Publication Date: 2014-10

Variant appearance in text: TAS2R43: L193I
PubMed Link: 24662767
Variant Present in the following documents:
  • NIHMS57574-supplement-data_tables.xlsx, sheet 2
View BVdb publication page