Bibliome.ai browser hg19
Search
About
Stats
FAQ
SCN4A c.2952C>G ;(p.N984K)
Variant ID: 17-62026790-G-C
NM_000334.4(
SCN4A
):c.2952C>G;(p.N984K)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.
Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06
Variant appearance in text: HYPP: N984K
PubMed Link:
28150151
Variant Present in the following documents:
Main text
View BVdb publication page