TSC2 c.4157G>A ;(p.S1386N)

Variant ID: 16-2134380-G-A

NM_000548.3(TSC2):c.4157G>A;(p.S1386N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Association of high-risk neuroblastoma classification based on expression profiles with differentiation and metabolism.

Plos One
Kimura, Shunsuke S; Sekiguchi, Masahiro M; Watanabe, Kentaro K; Hiwatarai, Mitsuteru M; Seki, Masafumi M; Yoshida, Kenichi K; Isobe, Tomoya T; Shiozawa, Yusuke Y; Suzuki, Hiromichi H; Hoshino, Noriko N; Hayashi, Yasuhide Y; Oka, Akira A; Miyano, Satoru S; Ogawa, Seishi S; Takita, Junko J
Publication Date: 2021

Variant appearance in text: TSC2: S1386N
PubMed Link: 33465163
Variant Present in the following documents:
  • pone.0245526.s011.xlsx, sheet 1
View BVdb publication page



The functional landscape of the human phosphoproteome.

Nature Biotechnology
Ochoa, David D; Jarnuczak, Andrew F AF; Viéitez, Cristina C; Gehre, Maja M; Soucheray, Margaret M; Mateus, André A; Kleefeldt, Askar A AA; Hill, Anthony A; Garcia-Alonso, Luz L; Stein, Frank F; Krogan, Nevan J NJ; Savitski, Mikhail M MM; Swaney, Danielle L DL; Vizcaíno, Juan A JA; Noh, Kyung-Min KM; Beltrao, Pedro P
Publication Date: 2020-03

Variant appearance in text: TSC2: 4157G>A; Ser1386Asn
PubMed Link: 31819260
Variant Present in the following documents:
  • EMS84831-supplement-Table_S5.xlsx, sheet 1
View BVdb publication page