SI c.47T>G ;(p.L16R)

Variant ID: 3-164793754-A-C

NM_001041.3(SI):c.47T>G;(p.L16R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The evolving proteome of SARS-CoV-2 predominantly uses mutation combination strategy for survival.

Computational And Structural Biotechnology Journal
Patro, L Ponoop Prasad LPP; Sathyaseelan, Chakkarai C; Uttamrao, Patil Pranita PP; Rathinavelan, Thenmalarchelvi T
Publication Date: 2021

Variant appearance in text: SI: L16R
PubMed Link: 34109017
Variant Present in the following documents:
  • mmc10.xlsx, sheet 1
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: SI: Leu16Arg
PubMed Link: 29703791
Variant Present in the following documents:
  • gutjnl-2017-314549supp010.xlsx, sheet 1
View BVdb publication page



ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

American Journal Of Human Genetics
Zariwala, Maimoona A MA; Gee, Heon Yung HY; Kurkowiak, Małgorzata M; Al-Mutairi, Dalal A DA; Leigh, Margaret W MW; Hurd, Toby W TW; Hjeij, Rim R; Dell, Sharon D SD; Chaki, Moumita M; Dougherty, Gerard W GW; Adan, Mohamed M; Spear, Philip C PC; Esteve-Rudd, Julian J; Loges, Niki T NT; Rosenfeld, Margaret M; Diaz, Katrina A KA; Olbrich, Heike H; Wolf, Whitney E WE; Sheridan, Eamonn E; Batten, Trevor F C TF; Halbritter, Jan J; Porath, Jonathan D JD; Kohl, Stefan S; Lovric, Svjetlana S; Hwang, Daw-Yang DY; Pittman, Jessica E JE; Burns, Kimberlie A KA; Ferkol, Thomas W TW; Sagel, Scott D SD; Olivier, Kenneth N KN; Morgan, Lucy C LC; Werner, Claudius C; Raidt, Johanna J; Pennekamp, Petra P; Sun, Zhaoxia Z; Zhou, Weibin W; Airik, Rannar R; Natarajan, Sivakumar S; Allen, Susan J SJ; Amirav, Israel I; Wieczorek, Dagmar D; Landwehr, Kerstin K; Nielsen, Kim K; Schwerk, Nicolaus N; Sertic, Jadranka J; Köhler, Gabriele G; Washburn, Joseph J; Levy, Shawn S; Fan, Shuling S; Koerner-Rettberg, Cordula C; Amselem, Serge S; Williams, David S DS; Mitchell, Brian J BJ; Drummond, Iain A IA; Otto, Edgar A EA; Omran, Heymut H; Knowles, Michael R MR; Hildebrandt, Friedhelm F
Publication Date: 2013-08-08

Variant appearance in text: SI: 47T>G
PubMed Link: 23891469
Variant Present in the following documents:
  • Main text
View BVdb publication page