TSC2 c.4993C>A ;(p.Q1665K)

Variant ID: 16-2137867-C-A

NM_000548.3(TSC2):c.4993C>A;(p.Q1665K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The molecular characteristics of high-grade gastroenteropancreatic neuroendocrine neoplasms.

Endocrine-Related Cancer
Venizelos, Andreas A; Elvebakken, Hege H; Perren, Aurel A; Nikolaienko, Oleksii O; Deng, Wei W; Lothe, Inger Marie B IMB; Couvelard, Anne A; Hjortland, Geir Olav GO; Sundlöv, Anna A; Svensson, Johanna J; Garresori, Harrish H; Kersten, Christian C; Hofsli, Eva E; Detlefsen, Sönke S; Krogh, Merete M; Sorbye, Halfdan H; Knappskog, Stian S
Publication Date: 2021-11-11

Variant appearance in text: TSC2: Q1665K
PubMed Link: 34647903
Variant Present in the following documents:
  • supplementary_table_4.xlsx, sheet 3
View BVdb publication page



Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13

Variant appearance in text: TSC2: 4993C>A; P1665T
PubMed Link: 30545397
Variant Present in the following documents:
  • 13045_2018_679_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page