Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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