SI c.142C>T ;(p.P48S)

Variant ID: 3-164792432-G-A

NM_001041.3(SI):c.142C>T;(p.P48S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: SI: 142C>T; P48S
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page



Neutral sphingomyelinase 2 regulates inflammatory responses in monocytes/macrophages induced by TNF-α.

Scientific Reports
Al-Rashed, Fatema F; Ahmad, Zunair Z; Thomas, Reeby R; Melhem, Motasem M; Snider, Ashley J AJ; Obeid, Lina M LM; Al-Mulla, Fahd F; Hannun, Yusuf A YA; Ahmad, Rasheed R
Publication Date: 2020-10-08

Variant appearance in text: SI: P48S
PubMed Link: 33033337
Variant Present in the following documents:
  • 41598_2020_73912_MOESM1_ESM.pdf
View BVdb publication page



Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease.

Frontiers In Endocrinology
Ceccarini, Giovanni G; Magno, Silvia S; Pelosini, Caterina C; Ferrari, Federica F; Sessa, Maria Rita MR; Scabia, Gaia G; Maffei, Margherita M; Jéru, Isabelle I; Lascols, Olivier O; Vigouroux, Corinne C; Santini, Ferruccio F
Publication Date: 2020

Variant appearance in text: SI: 142C>T
PubMed Link: 32117065
Variant Present in the following documents:
  • fendo-11-00039.pdf
View BVdb publication page



eIF1 Loop 2 interactions with Met-tRNAi control the accuracy of start codon selection by the scanning preinitiation complex.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Thakur, Anil A; Hinnebusch, Alan G AG
Publication Date: 2018-05-01

Variant appearance in text: SI: p48S
PubMed Link: 29666249
Variant Present in the following documents:
  • Main text
View BVdb publication page