MYBPC3 c.3342C>T ;(p.T1114=)

Variant ID: 11-47354513-G-A

NM_000256.3(MYBPC3):c.3342C>T;(p.T1114=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder.

Nature Communications
Nishioka, Masaki M; Kazuno, An-A AA; Nakamura, Takumi T; Sakai, Naomi N; Hayama, Takashi T; Fujii, Kumiko K; Matsuo, Koji K; Komori, Atsuko A; Ishiwata, Mizuho M; Watanabe, Yoshinori Y; Oka, Takashi T; Matoba, Nana N; Kataoka, Muneko M; Alkanaq, Ahmed N AN; Hamanaka, Kohei K; Tsuboi, Takashi T; Sengoku, Toru T; Ogata, Kazuhiro K; Iwata, Nakao N; Ikeda, Masashi M; Matsumoto, Naomichi N; Kato, Tadafumi T; Takata, Atsushi A
Publication Date: 2021-06-18

Variant appearance in text: MYBPC3: 3342C>T; Thr1114Thr
PubMed Link: 34145229
Variant Present in the following documents:
  • 41467_2021_23453_MOESM4_ESM.xlsx, sheet 1
  • 41467_2021_23453_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: MYBPC3: 3342C>T; T1114T
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations.

Molecular Psychiatry
Kataoka, M M; Matoba, N N; Sawada, T T; Kazuno, A-A AA; Ishiwata, M M; Fujii, K K; Matsuo, K K; Takata, A A; Kato, T T
Publication Date: 2016-07

Variant appearance in text: MYBPC3: T1114T
PubMed Link: 27217147
Variant Present in the following documents:
  • Main text
  • mp201669x3.xlsx, sheet 1
View BVdb publication page