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VPS13A c.269T>A ;(p.I90K)
Variant ID: 9-79820310-T-A
NM_033305.2(
VPS13A
):c.269T>A;(p.I90K)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Proceedings of the Tenth International Meeting on Neuroacanthocytosis Syndromes.
Tremor And Other Hyperkinetic Movements (New York, N.Y.)
Masana, Merc M; Rodriguez, Manuel J MJ; Alberch, Jordi J
Publication Date: 2021-05-21
Variant appearance in text: VPS13A: I90K
PubMed Link:
34046249
Variant Present in the following documents:
tohm-11-1-622.pdf
View BVdb publication page
XK is a partner for VPS13A: a molecular link between Chorea-Acanthocytosis and McLeod Syndrome.
Molecular Biology Of The Cell
Park, Jae-Sook JS; Neiman, Aaron M AM
Publication Date: 2020-10-15
Variant appearance in text: VPS13A: I90K
PubMed Link:
32845802
Variant Present in the following documents:
Main text
mbc-31-2425.pdf
View BVdb publication page
Late Emergence of Parkinsonian Phenotype and Abnormal Dopamine Transporter Scan in Chorea-Acanthocytosis.
Movement Disorders Clinical Practice
Nagy, Anna A; Noyce, Alastair A; Velayos-Baeza, Antonio A; Lees, Andrew J AJ; Warner, Thomas T TT; Ling, Helen H
Publication Date: 2015-06
Variant appearance in text: VPS13A: 0269T>A; I90K
PubMed Link:
30713892
Variant Present in the following documents:
Main text
View BVdb publication page
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: CHAC: I90K
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: VPS13A: I90K
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page