HR c.2092_2094delinsTTT ;(p.V698F)

Variant ID: 8-21980033-TAC-AAA

NM_005144.4(HR):c.2092_2094delinsTTT;(p.V698F)

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:

A V-to-F substitution in SK2 channels causes Ca2+ hypersensitivity and improves locomotion in a C. elegans ALS model.

Scientific Reports
Nam, Young-Woo YW; Baskoylu, Saba N SN; Gazgalis, Dimitris D; Orfali, Razan R; Cui, Meng M; Hart, Anne C AC; Zhang, Miao M
Publication Date: 2018-07-16

Variant appearance in text: HR: V698F
PubMed Link: 30013223
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_28783.pdf
View BVdb publication page