TSC2 c.3974G>A ;(p.G1325D)

Variant ID: 16-2133786-G-A

NM_000548.3(TSC2):c.3974G>A;(p.G1325D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine.

Genome Medicine
Röcken, Christoph C; Amallraja, Anu A; Halske, Christine C; Opasic, Luka L; Traulsen, Arne A; Behrens, Hans-Michael HM; Krüger, Sandra S; Liu, Anne A; Haag, Jochen J; Egberts, Jan-Hendrik JH; Rosenstiel, Philip P; Meißner, Tobias T
Publication Date: 2021-11-08

Variant appearance in text: TSC2: G1325D
PubMed Link: 34749812
Variant Present in the following documents:
  • 13073_2021_975_MOESM2_ESM.xlsx, sheet 6
  • 13073_2021_975_MOESM2_ESM.xlsx, sheet 12
View BVdb publication page



Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Molecular Autism
Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V
Publication Date: 2013-03-20

Variant appearance in text: TSC2: G1325D
PubMed Link: 23514105
Variant Present in the following documents:
  • Main text
  • 2040-2392-4-5.pdf
View BVdb publication page



High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.

Plos One
Kelleher, Raymond J RJ; Geigenmüller, Ute U; Hovhannisyan, Hayk H; Trautman, Edwin E; Pinard, Robert R; Rathmell, Barbara B; Carpenter, Randall R; Margulies, David D
Publication Date: 2012

Variant appearance in text: TSC2: 3974G>A; G1325D
PubMed Link: 22558107
Variant Present in the following documents:
  • Main text
  • pone.0035003.pdf
  • pone.0035003.s004.pdf
View BVdb publication page