MYH7 c.143A>G ;(p.K48R)

Variant ID: 14-23902799-T-C

NM_000257.2(MYH7):c.143A>G;(p.K48R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


E3 ubiquitin ligase RNF5 attenuates pathological cardiac hypertrophy through STING.

Cell Death & Disease
Yang, Lu-Lu LL; Xiao, Wen-Chang WC; Li, Huan H; Hao, Zheng-Yang ZY; Liu, Gui-Zhi GZ; Zhang, Dian-Hong DH; Wu, Lei-Ming LM; Wang, Zheng Z; Zhang, Yan-Qing YQ; Huang, Zhen Z; Zhang, Yan-Zhou YZ
Publication Date: 2022-10-21

Variant appearance in text: MYH7: K48R
PubMed Link: 36270989
Variant Present in the following documents:
  • Main text
  • 41419_2022_Article_5231.pdf
View BVdb publication page



Complete response to anti-PD-L1 antibody in a metastatic bladder cancer associated with novel MSH4 mutation and microsatellite instability.

Journal For Immunotherapy Of Cancer
Yang, Yuanquan Y; Jain, Rohit K RK; Glenn, Sean T ST; Xu, Bo B; Singh, Prashant K PK; Wei, Lei L; Hu, Qiang Q; Long, Mark M; Hutson, Nicholas N; Wang, Jianming J; Battaglia, Sebastiano S; George, Saby S
Publication Date: 2020-03

Variant appearance in text: MYH7: K48R
PubMed Link: 32221012
Variant Present in the following documents:
  • jitc-2019-000128supp001.xlsx, sheet 1
View BVdb publication page



Vps34 regulates myofibril proteostasis to prevent hypertrophic cardiomyopathy.

Jci Insight
Kimura, Hirotaka H; Eguchi, Satoshi S; Sasaki, Junko J; Kuba, Keiji K; Nakanishi, Hiroki H; Takasuga, Shunsuke S; Yamazaki, Masakazu M; Goto, Akiteru A; Watanabe, Hiroyuki H; Itoh, Hiroshi H; Imai, Yumiko Y; Suzuki, Akira A; Mizushima, Noboru N; Sasaki, Takehiko T
Publication Date: 2017-01-12

Variant appearance in text: MYH7: K48R
PubMed Link: 28097232
Variant Present in the following documents:
  • Main text
View BVdb publication page