ALPP c.692G>T ;(p.R231L)

Variant ID: 2-233244930-G-T

NM_001632.3(ALPP):c.692G>T;(p.R231L)

This variant was identified in 5 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: rs1048988
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Risk factors for vertical transmission of Chagas disease: A systematic review and meta-analysis.

International Journal Of Infectious Diseases : Ijid : Official Publication Of The International Society For Infectious Diseases
Klein, Melissa D MD; Proaño, Alvaro A; Noazin, Sassan S; Sciaudone, Michael M; Gilman, Robert H RH; Bowman, Natalie M NM
Publication Date: 2021-04

Variant appearance in text: rs1048988
PubMed Link: 33618005
Variant Present in the following documents:
  • Main text
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: rs1048988
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs1048988
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Cigarette smoking reduces DNA methylation levels at multiple genomic loci but the effect is partially reversible upon cessation.

Epigenetics
Tsaprouni, Loukia G LG; Yang, Tsun-Po TP; Bell, Jordana J; Dick, Katherine J KJ; Kanoni, Stavroula S; Nisbet, James J; Viñuela, Ana A; Grundberg, Elin E; Nelson, Christopher P CP; Meduri, Eshwar E; Buil, Alfonso A; Cambien, Francois F; Hengstenberg, Christian C; Erdmann, Jeanette J; Schunkert, Heribert H; Goodall, Alison H AH; Ouwehand, Willem H WH; Dermitzakis, Emmanouil E; Spector, Tim D TD; Samani, Nilesh J NJ; Deloukas, Panos P
Publication Date: 2014-10

Variant appearance in text: rs1048988
PubMed Link: 25424692
Variant Present in the following documents:
  • Main text
View BVdb publication page