SI c.751C>A ;(p.H251N)

Variant ID: 3-164783105-G-T

NM_001041.3(SI):c.751C>A;(p.H251N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Three perspectives on the molecular basis of hypercontractility caused by hypertrophic cardiomyopathy mutations.

Pflugers Archiv : European Journal Of Physiology
Spudich, James A JA
Publication Date: 2019-05

Variant appearance in text: SI: H251N
PubMed Link: 30767072
Variant Present in the following documents:
  • 424_2019_Article_2259.pdf
View BVdb publication page



The myosin mesa and the basis of hypercontractility caused by hypertrophic cardiomyopathy mutations.

Nature Structural & Molecular Biology
Nag, Suman S; Trivedi, Darshan V DV; Sarkar, Saswata S SS; Adhikari, Arjun S AS; Sunitha, Margaret S MS; Sutton, Shirley S; Ruppel, Kathleen M KM; Spudich, James A JA
Publication Date: 2017-06

Variant appearance in text: SI: H251N
PubMed Link: 28481356
Variant Present in the following documents:
  • Main text
View BVdb publication page