SI c.646A>T ;(p.S216C)

Variant ID: 3-164783210-T-A

NM_001041.3(SI):c.646A>T;(p.S216C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Voltage-sensor movements describe slow inactivation of voltage-gated sodium channels II: a periodic paralysis mutation in Na(V)1.4 (L689I).

The Journal Of General Physiology
Silva, Jonathan R JR; Goldstein, Steve A N SA
Publication Date: 2013-03

Variant appearance in text: SI: S216C
PubMed Link: 23401572
Variant Present in the following documents:
  • Main text
View BVdb publication page



Voltage-sensor movements describe slow inactivation of voltage-gated sodium channels I: wild-type skeletal muscle Na(V)1.4.

The Journal Of General Physiology
Silva, Jonathan R JR; Goldstein, Steve A N SA
Publication Date: 2013-03

Variant appearance in text: SI: S216C
PubMed Link: 23401571
Variant Present in the following documents:
  • Main text
  • JGP_201210909.pdf
View BVdb publication page