GC c.1378C>A ;(p.L460I)

Variant ID: 4-72618252-G-T

NM_000583.3(GC):c.1378C>A;(p.L460I)

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: 1378C>A; L460I
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: 1378C>A
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Three segment ligation of a 104 kDa multi-domain protein by SrtA and OaAEP1.

Journal Of Biomolecular Nmr
Azatian, Stephan B SB; Canny, Marella D MD; Latham, Michael P MP
Publication Date: 2022-12-21

Variant appearance in text: GC: L460I
PubMed Link: 36539644
Variant Present in the following documents:
  • 10858_2022_Article_409.pdf
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: GC: 1378C>A
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



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: GC: 1378C>A; L460M
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page



Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.

Human Mutation
Komine, Keigo K; Shimodaira, Hideki H; Takao, Masashi M; Soeda, Hiroshi H; Zhang, Xiaofei X; Takahashi, Masanobu M; Ishioka, Chikashi C
Publication Date: 2015-07

Variant appearance in text: GC: 1378C>A
PubMed Link: 25820570
Variant Present in the following documents:
  • Main text
  • humu0036-0704.pdf
View BVdb publication page