HR c.1043T>C ;(p.L348P)

Variant ID: 8-21984912-A-G

NM_005144.4(HR):c.1043T>C;(p.L348P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Point mutations in the tri-helix bundle of the M-domain of cardiac myosin binding protein-C influence systolic duration and delay cardiac relaxation.

Journal Of Molecular And Cellular Cardiology
van Dijk, Sabine J SJ; Kooiker, Kristina B KB; Napierski, Nathaniel C NC; Touma, Katia D KD; Mazzalupo, Stacy S; Harris, Samantha P SP
Publication Date: 2018-06

Variant appearance in text: HR: L348P
PubMed Link: 29729251
Variant Present in the following documents:
  • Main text
View BVdb publication page



Asymmetric cross-regulation between the nitrate-responsive NarX-NarL and NarQ-NarP two-component regulatory systems from Escherichia coli K-12.

Molecular Microbiology
Noriega, Chris E CE; Lin, Hsia-Yin HY; Chen, Li-Ling LL; Williams, Stanly B SB; Stewart, Valley V
Publication Date: 2010-01

Variant appearance in text: HR: L348P
PubMed Link: 19968795
Variant Present in the following documents:
  • Main text
View BVdb publication page