VPS13A c.1305G>A ;(p.W435*)

Variant ID: 9-79841462-G-A

NM_033305.2(VPS13A):c.1305G>A;(p.W435*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology
Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J
Publication Date: 2021-07

Variant appearance in text: VPS13A: 1305G>A; W435*
PubMed Link: 33482222
Variant Present in the following documents:
  • mmc1.xlsx, sheet 4
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: 1305G>A; W435X
PubMed Link: 30713892
Variant Present in the following documents:
  • Main text
View BVdb publication page