HMOX2 c.337A>T ;(p.M113L)

Variant ID: 16-4557846-A-T

NM_002134.3(HMOX2):c.337A>T;(p.M113L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Molecular Neurodegeneration
Gialluisi, Alessandro A; Reccia, Mafalda Giovanna MG; Modugno, Nicola N; Nutile, Teresa T; Lombardi, Alessia A; Di Giovannantonio, Luca Giovanni LG; Pietracupa, Sara S; Ruggiero, Daniela D; Scala, Simona S; Gambardella, Stefano S; , ; Iacoviello, Licia L; Gianfrancesco, Fernando F; Acampora, Dario D; D'Esposito, Maurizio M; Simeone, Antonio A; Ciullo, Marina M; Esposito, Teresa T
Publication Date: 2021-06-21

Variant appearance in text: rs150288371
PubMed Link: 34148545
Variant Present in the following documents:
  • 13024_2021_455_MOESM1_ESM.pdf
View BVdb publication page



A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A
Villa, Francesco F; MaciÄ…g, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA
Publication Date: 2014

Variant appearance in text: HMOX2: M113L; rs150288371
PubMed Link: 25469153
Variant Present in the following documents:
  • 12979_2014_19_MOESM2_ESM.xls, sheet 1
View BVdb publication page