TTN c.1221G>C ;(p.E407D)

Variant ID: 2-179659673-C-G

NM_001267550.1(TTN):c.1221G>C;(p.E407D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology
Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW
Publication Date: 2023-03-13

Variant appearance in text: TTN: E407D
PubMed Link: 36914848
Variant Present in the following documents:
  • 41698_2023_366_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Recent Progress in Chemo-Enzymatic Methods for the Synthesis of N-Glycans.

Frontiers In Chemistry
Chao, Qiang Q; Ding, Yi Y; Chen, Zheng-Hui ZH; Xiang, Meng-Hai MH; Wang, Ning N; Gao, Xiao-Dong XD
Publication Date: 2020

Variant appearance in text: TMD: E407D
PubMed Link: 32612979
Variant Present in the following documents:
  • Main text
  • fchem-08-00513.pdf
View BVdb publication page



Molecular profiling of driver events in metastatic uveal melanoma.

Nature Communications
Karlsson, Joakim J; Nilsson, Lisa M LM; Mitra, Suman S; Alsén, Samuel S; Shelke, Ganesh Vilas GV; Sah, Vasu R VR; Forsberg, Elin M V EMV; Stierner, Ulrika U; All-Eriksson, Charlotta C; Einarsdottir, Berglind B; Jespersen, Henrik H; Ny, Lars L; Lindnér, Per P; Larsson, Erik E; Olofsson Bagge, Roger R; Nilsson, Jonas A JA
Publication Date: 2020-04-20

Variant appearance in text: TTN: 1221G>C; Glu407Asp
PubMed Link: 32313009
Variant Present in the following documents:
  • 41467_2020_15606_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page