MYBPC3 c.3316G>A ;(p.D1106N)

Variant ID: 11-47354759-C-T

NM_000256.3(MYBPC3):c.3316G>A;(p.D1106N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: MYBPC3: D1106N
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Genotype-Related Clinical Characteristics and Myocardial Fibrosis and their Association with Prognosis in Hypertrophic Cardiomyopathy.

Journal Of Clinical Medicine
Kim, Hyung Yoon HY; Park, Jong Eun JE; Lee, Sang-Chol SC; Jeon, Eun-Seok ES; On, Young Keun YK; Kim, Sung Mok SM; Choe, Yeon Hyeon YH; Ki, Chang-Seok CS; Kim, Jong-Won JW; Kim, Kye Hun KH
Publication Date: 2020-06-01

Variant appearance in text: MYBPC3: 3316G>A; Asp1106Asn
PubMed Link: 32492895
Variant Present in the following documents:
  • Main text
  • jcm-09-01671.pdf
View BVdb publication page



Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14

Variant appearance in text: MYBPC3: D1106N; rs377106864
PubMed Link: 28706299
Variant Present in the following documents:
  • emm2017142x4.xls, sheet 1
View BVdb publication page