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.




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