TSC2 c.1716+183A>G

Variant ID: 16-2115819-A-G

NM_000548.3(TSC2):c.1716+183A>G

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs8063461
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs8063461
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



Genetic variants in genes related to inflammation, apoptosis and autophagy in breast cancer risk.

Plos One
Schuetz, Johanna M JM; Grundy, Anne A; Lee, Derrick G DG; Lai, Agnes S AS; Kobayashi, Lindsay C LC; Richardson, Harriet H; Long, Jirong J; Zheng, Wei W; Aronson, Kristan J KJ; Spinelli, John J JJ; Brooks-Wilson, Angela R AR
Publication Date: 2019

Variant appearance in text: rs8063461
PubMed Link: 30601841
Variant Present in the following documents:
  • Main text
  • pone.0209010.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: TSC2: 1716+183A>G; rs8063461
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Functional PTGS2 polymorphism-based models as novel predictive markers in metastatic renal cell carcinoma patients receiving first-line sunitinib.

Scientific Reports
Cebrián, Arancha A; Gómez Del Pulgar, Teresa T; Méndez-Vidal, María José MJ; Gonzálvez, María Luisa ML; Lainez, Nuria N; Castellano, Daniel D; García-Carbonero, Iciar I; Esteban, Emilio E; Sáez, Maria Isabel MI; Villatoro, Rosa R; Suárez, Cristina C; Carrato, Alfredo A; Munárriz-Ferrándiz, Javier J; Basterrechea, Laura L; García-Alonso, Mirta M; González-Larriba, José Luis JL; Perez-Valderrama, Begoña B; Cruz-Jurado, Josefina J; González Del Alba, Aránzazu A; Moreno, Fernando F; Reynés, Gaspar G; Rodríguez-Remírez, María M; Boni, Valentina V; Mahillo-Fernández, Ignacio I; Martin, Yolanda Y; Viqueira, Andrea A; García-Foncillas, Jesús J
Publication Date: 2017-01-24

Variant appearance in text: rs8063461
PubMed Link: 28117391
Variant Present in the following documents:
  • Main text
  • srep41371.pdf
View BVdb publication page



Response to Belgard et al.

Molecular Psychiatry
Skafidas, E E; Testa, R R; Zantomio, D D; Chana, G G; Everall, I P IP; Pantelis, C C
Publication Date: 2014-04

Variant appearance in text: rs8063461
PubMed Link: 24419040
Variant Present in the following documents:
  • Main text
  • mp2013186a.pdf
View BVdb publication page



Genetic variation in base excision repair pathway genes, pesticide exposure, and prostate cancer risk.

Environmental Health Perspectives
Barry, Kathryn Hughes KH; Koutros, Stella S; Berndt, Sonja I SI; Andreotti, Gabriella G; Hoppin, Jane A JA; Sandler, Dale P DP; Burdette, Laurie A LA; Yeager, Meredith M; Freeman, Laura E Beane LE; Lubin, Jay H JH; Ma, Xiaomei X; Zheng, Tongzhang T; Alavanja, Michael C R MC
Publication Date: 2011-12

Variant appearance in text: rs8063461
PubMed Link: 21810555
Variant Present in the following documents:
  • Main text
  • ehp.1103454.pdf
  • ehp.1103454.s001.pdf
View BVdb publication page



Genetic variations in PI3K-AKT-mTOR pathway and bladder cancer risk.

Carcinogenesis
Chen, Meng M; Cassidy, Adrian A; Gu, Jian J; Delclos, George L GL; Zhen, Fan F; Yang, Hushan H; Hildebrandt, Michelle A T MA; Lin, Jie J; Ye, Yuanqing Y; Chamberlain, Robert M RM; Dinney, Colin P CP; Wu, Xifeng X
Publication Date: 2009-12

Variant appearance in text: rs8063461
PubMed Link: 19875696
Variant Present in the following documents:
  • Main text
View BVdb publication page