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CACNA1S c.5614A>T ;(p.R1872W)
Variant ID: 1-201008967-T-A
NM_000069.2(
CACNA1S
):c.5614A>T;(p.R1872W)
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: Cav1.1: R1872W
PubMed Link:
28150151
Variant Present in the following documents:
Main text
View BVdb publication page