TG c.4144G>A ;(p.D1382N)

Variant ID: 8-133923763-G-A

NM_003235.4(TG):c.4144G>A;(p.D1382N)

This variant was identified in 5 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: TG: 4144G>A
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genetic trajectory and clonal evolution of multiple primary lung cancer with lymph node metastasis.

Cancer Gene Therapy
Tian, He H; Wang, Yalong Y; Yang, Zhenlin Z; Chen, Ping P; Xu, Jiachen J; Tian, Yanhua Y; Fan, Tao T; Xiao, Chu C; Bai, Guangyu G; Li, Lin L; Zheng, Bo B; Li, Chunxiang C; He, Jie J
Publication Date: 2023-01-19

Variant appearance in text: TG: 4144G>A
PubMed Link: 36653483
Variant Present in the following documents:
  • 41417_2022_572_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.

Plos One
Koskenvuo, Juha W JW; Saarinen, Inka I; Ahonen, Saija S; Tommiska, Johanna J; Weckström, Sini S; Seppälä, Eija H EH; Tuupanen, Sari S; Kangas-Kontio, Tiia T; Schleit, Jennifer J; Heliö, Krista K; Hathaway, Julie J; Gummesson, Anders A; Dahlberg, Pia P; Ojala, Tiina H TH; Vepsäläinen, Ville V; Kytölä, Ville V; Muona, Mikko M; Sistonen, Johanna J; Salmenperä, Pertteli P; Gentile, Massimiliano M; Paananen, Jussi J; Myllykangas, Samuel S; Alastalo, Tero-Pekka TP; Heliö, Tiina T
Publication Date: 2021

Variant appearance in text: TG: 4144G>A
PubMed Link: 33534821
Variant Present in the following documents:
  • pone.0245681.s001.xlsx, sheet 1
View BVdb publication page



Novel potential causative genes in carotid paragangliomas.

Bmc Medical Genetics
Snezhkina, Anastasiya V AV; Lukyanova, Elena N EN; Zaretsky, Andrew R AR; Kalinin, Dmitry V DV; Pokrovsky, Anatoly V AV; Golovyuk, Alexander L AL; Krasnov, George S GS; Fedorova, Maria S MS; Pudova, Elena A EA; Kharitonov, Sergey L SL; Melnikova, Nataliya V NV; Alekseev, Boris Y BY; Kiseleva, Marina V MV; Kaprin, Andrey D AD; Dmitriev, Alexey A AA; Kudryavtseva, Anna V AV
Publication Date: 2019-04-09

Variant appearance in text: TG: 4144G>A
PubMed Link: 30967136
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_770.pdf
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: TG: 4144G>A
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page