NDUFAF2 c.406C>T ;(p.P136S)

Variant ID: 5-60448678-C-T

NM_174889.4(NDUFAF2):c.406C>T;(p.P136S)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.

Biomolecules
Marra, Federica F; Lunetti, Paola P; Curcio, Rosita R; Lasorsa, Francesco Massimo FM; Capobianco, Loredana L; Porcelli, Vito V; Dolce, Vincenza V; Fiermonte, Giuseppe G; Scarcia, Pasquale P
Publication Date: 2021-11-04

Variant appearance in text: NDUFAF2: P136S
PubMed Link: 34827632
Variant Present in the following documents:
  • Main text
  • biomolecules-11-01633.pdf
View BVdb publication page