HR c.515C>T ;(p.P172L)

Variant ID: 8-21986169-G-A

NM_005144.4(HR):c.515C>T;(p.P172L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


An engineered GH1 β-glucosidase displays enhanced glucose tolerance and increased sugar release from lignocellulosic materials.

Scientific Reports
Santos, Clelton A CA; Morais, Mariana A B MAB; Terrett, Oliver M OM; Lyczakowski, Jan J JJ; Zanphorlin, Letícia M LM; Ferreira-Filho, Jaire A JA; Tonoli, Celisa C C CCC; Murakami, Mario T MT; Dupree, Paul P; Souza, Anete P AP
Publication Date: 2019-03-20

Variant appearance in text: HR: P172L
PubMed Link: 30894609
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_41300.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: HR: 515C>T; Pro172Leu
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Using the Amino Acid Network to Modulate the Hydrolytic Activity of β-Glycosidases.

Plos One
Tamaki, Fábio K FK; Souza, Diorge P DP; Souza, Valquiria P VP; Ikegami, Cecilia M CM; Farah, Chuck S CS; Marana, Sandro R SR
Publication Date: 2016

Variant appearance in text: HR: P172L
PubMed Link: 27936116
Variant Present in the following documents:
  • Main text
  • pone.0167978.pdf
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: HR: 515C>T
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page