GC c.754T>A ;(p.L252M)

Variant ID: 4-72623836-A-T

NM_000583.3(GC):c.754T>A;(p.L252M)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: GC: 754T>A
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology
Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M
Publication Date: 2023-03-03

Variant appearance in text: GC: 754T>A
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31

Variant appearance in text: GC: 754T>A
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy.

Journal Of Medical Genetics
Kim, Yoon-Myung YM; Yum, Mi-Sun MS; Heo, Sun Hee SH; Kim, Taeho T; Jin, Hee Kyung HK; Bae, Jae-Sung JS; Seo, Go Hun GH; Oh, Arum A; Yoon, Hee Mang HM; Lim, Hyun Taek HT; Kim, Hyo-Won HW; Ko, Tae-Sung TS; Lim, Hyeong-Seok HS; Osborn, Mark J MJ; Tolar, Jakub J; Cozma, Claudia C; Rolfs, Arndt A; Zimran, Ari A; Lee, Beom Hee BH; Yoo, Han-Wook HW
Publication Date: 2020-02

Variant appearance in text: GC: 754T>A
PubMed Link: 31649052
Variant Present in the following documents:
  • jmedgenet-2019-106132.pdf
View BVdb publication page



Human gastric cancer modelling using organoids.

Gut
Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE
Publication Date: 2019-02

Variant appearance in text: GC: Leu252Met
PubMed Link: 29703791
Variant Present in the following documents:
  • gutjnl-2017-314549supp010.xlsx, sheet 3
View BVdb publication page



Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease.

The Journal Of Biological Chemistry
Maegawa, Gustavo H B GH; Tropak, Michael B MB; Buttner, Justin D JD; Rigat, Brigitte A BA; Fuller, Maria M; Pandit, Deepangi D; Tang, Liangiie L; Kornhaber, Gregory J GJ; Hamuro, Yoshitomo Y; Clarke, Joe T R JT; Mahuran, Don J DJ
Publication Date: 2009-08-28

Variant appearance in text:
PubMed Link: 19578116
Variant Present in the following documents:
  • Main text
View BVdb publication page