SI c.538_539delinsGC ;(p.F180A)

Variant ID: 3-164785224-AA-GC

NM_001041.3(SI):c.538_539delinsGC;(p.F180A)

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:

The free energy barrier for arginine gating charge translation is altered by mutations in the voltage sensor domain.

Plos One
Schwaiger, Christine S CS; Börjesson, Sara I SI; Hess, Berk B; Wallner, Björn B; Elinder, Fredrik F; Lindahl, Erik E
Publication Date: 2012

Variant appearance in text: SI: F180A
PubMed Link: 23094020
Variant Present in the following documents:
  • pone.0045880.pdf
View BVdb publication page