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.




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