SI c.5C>T ;(p.A2V)

Variant ID: 3-164793796-G-A

NM_001041.3(SI):c.5C>T;(p.A2V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


In-depth characterization of intratumoral heterogeneity in refractory B-cell non-Hodgkin lymphoma through the lens of a Research Autopsy Program.

Haematologica
Isaev, Keren K; Liu, Ting T; Bakhtiari, Mehran M; Tong, Kit K; Goswami, Rashmi R; Lam, Bernard B; Lungu, Ilinca I; Krzyzanowski, Paul M PM; Oza, Amit A; Dhani, Neesha N; Prica, Anca A; Crump, Michael M; Kridel, Robert R
Publication Date: 2022-06-23

Variant appearance in text: SI: A2V
PubMed Link: 35734926
Variant Present in the following documents:
  • 2022_280900_ISAEV_TABS3_SUPPL.xlsx, sheet 1
View BVdb publication page



Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations.

Molecular Genetics & Genomic Medicine
Slynko, Inna I; Nguyen, Stephanie S; Hamilton, Eline M C EMC; Wisse, Lisanne E LE; de Esch, Iwan J P IJP; de Graaf, Chris C; Bruning, John B JB; Proud, Christopher G CG; Abbink, Truus E M TEM; van der Knaap, Marjo S MS
Publication Date: 2021-03

Variant appearance in text: SI: 5C>T; Ala2Val
PubMed Link: 33432707
Variant Present in the following documents:
  • MGG3-9-e1593-s001.pdf
View BVdb publication page



Genomic characterization of a newly established esophageal squamous cell carcinoma cell line from China and published esophageal squamous cell carcinoma cell lines.

Cancer Cell International
Li, Xiang X; Tian, Dongping D; Guo, Yi Y; Qiu, Shiyue S; Xu, Zexin Z; Deng, Wen W; Su, Min M
Publication Date: 2020

Variant appearance in text: SI: 5C>T; A2V
PubMed Link: 32489320
Variant Present in the following documents:
  • 12935_2020_1268_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page