SDHD c.361C>T ;(p.Q121*)

Variant ID: 11-111965575-C-T

NM_003002.3(SDHD):c.361C>T;(p.Q121*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy.

Jama Network Open
Neumann, Hartmut P H HPH; Tsoy, Uliana U; Bancos, Irina I; Amodru, Vincent V; Walz, Martin K MK; Tirosh, Amit A; Kaur, Ravinder Jeet RJ; McKenzie, Travis T; Qi, Xiaoping X; Bandgar, Tushar T; Petrov, Roman R; Yukina, Marina Y MY; Roslyakova, Anna A; van der Horst-Schrivers, Anouk N A ANA; Berends, Annika M A AMA; Hoff, Ana O AO; Castroneves, Luciana Audi LA; Ferrara, Alfonso Massimiliano AM; Rizzati, Silvia S; Mian, Caterina C; Dvorakova, Sarka S; Hasse-Lazar, Kornelia K; Kvachenyuk, Andrey A; Peczkowska, Mariola M; Loli, Paola P; Erenler, Feyza F; Krauss, Tobias T; Almeida, Madson Q MQ; Liu, Longfei L; Zhu, Feizhou F; Recasens, Mònica M; Wohllk, Nelson N; Corssmit, Eleonora P M EPM; Shafigullina, Zulfiya Z; Calissendorff, Jan J; Grozinsky-Glasberg, Simona S; Kunavisarut, Tada T; Schalin-Jäntti, Camilla C; Castinetti, Frederic F; Vlcek, Petr P; Beltsevich, Dmitry D; Egorov, Viacheslav I VI; Schiavi, Francesca F; Links, Thera P TP; Lechan, Ronald M RM; Bausch, Birke B; Young, William F WF; Eng, Charis C; ,
Publication Date: 2019-08-02

Variant appearance in text: SDHD: 361C>T; Gln121*
PubMed Link: 31397861
Variant Present in the following documents:
  • jamanetwopen-2-e198898-s001.pdf
View BVdb publication page



The emerging role and targetability of the TCA cycle in cancer metabolism.

Protein & Cell
Anderson, Nicole M NM; Mucka, Patrick P; Kern, Joseph G JG; Feng, Hui H
Publication Date: 2018-02

Variant appearance in text: SDHD: 361C>T
PubMed Link: 28748451
Variant Present in the following documents:
  • Main text
View BVdb publication page



Absence of BRAF mutation in pheochromocytoma and paraganglioma.

Neoplasma
Vosecka, T T; Vicha, A A; Zelinka, T T; Jencova, P P; Pacak, K K; Duskova, J J; Benes, J J; Guha, A A; Stanek, L L; Kohoutova, M M; Musil, Z Z
Publication Date: 2017

Variant appearance in text: SDHD: Gln121X
PubMed Link: 28043156
Variant Present in the following documents:
  • Main text
View BVdb publication page



FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors.

Journal Of Translational Medicine
Shi, Eileen E; Chmielecki, Juliann J; Tang, Chih-Min CM; Wang, Kai K; Heinrich, Michael C MC; Kang, Guhyun G; Corless, Christopher L CL; Hong, David D; Fero, Katherine E KE; Murphy, James D JD; Fanta, Paul T PT; Ali, Siraj M SM; De Siena, Martina M; Burgoyne, Adam M AM; Movva, Sujana S; Madlensky, Lisa L; Heestand, Gregory M GM; Trent, Jonathan C JC; Kurzrock, Razelle R; Morosini, Deborah D; Ross, Jeffrey S JS; Harismendy, Olivier O; Sicklick, Jason K JK
Publication Date: 2016-12-14

Variant appearance in text: SDHD: Q121*
PubMed Link: 27974047
Variant Present in the following documents:
  • 12967_2016_1075_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5.

Endocrine-Related Cancer
Benn, Diana E DE; Robinson, Bruce G BG; Clifton-Bligh, Roderick J RJ
Publication Date: 2015-08

Variant appearance in text: SDHD: Q121*
PubMed Link: 26273102
Variant Present in the following documents:
  • ERC150268.pdf
View BVdb publication page