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PC c.536A>C ;(p.E179A)
Variant ID: 11-66638620-T-G
NM_001040716.1(
PC
):c.536A>C;(p.E179A)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Evaluating inositol phospholipid interactions with inward rectifier potassium channels and characterising their role in disease.
Communications Chemistry
Pipatpolkai, Tanadet T; Corey, Robin A RA; Proks, Peter P; Ashcroft, Frances M FM; Stansfeld, Phillip J PJ
Publication Date: 2020-10-30
Variant appearance in text: PC: E179A
PubMed Link:
36703430
Variant Present in the following documents:
42004_2020_391_MOESM3_ESM.pdf
View BVdb publication page
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: PC: E179A
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page
From Bench to Biomolecular Simulation: Phospholipid Modulation of Potassium Channels.
Journal Of Molecular Biology
Pipatpolkai, Tanadet T; Quetschlich, Daniel D; Stansfeld, Phillip J PJ
Publication Date: 2021-08-20
Variant appearance in text: PC: E179A
PubMed Link:
34139216
Variant Present in the following documents:
Main text
View BVdb publication page