Variant ID: 12-102591499-AA-CC

NM_002674.2(PMCH):c.49_50delinsGG;(p.Leu17Gly)

This variant was identified in 2 publications




Publications:


Genetic inhibition of solute-linked carrier 39 family transporter 1 ameliorates aβ pathology in a Drosophila model of Alzheimer's disease.

Plos Genetics
M Lang, L Wang, Q Fan, G Xiao, X Wang, Y Zhong, B Zhou
Publication Date: 2012

Variant appearance in text: MCH: L17P
PubMed Link: 22570624
Variant Present in the following documents:
  • Main text
View BVdb publication page



Abeta42 mutants with different aggregation profiles induce distinct pathologies in Drosophila.

Plos One
K Iijima, HC Chiang, SA Hearn, I Hakker, A Gatt, C Shenton, L Granger, A Leung, K Iijima-Ando, Y Zhong
Publication Date: 2008-02-27

Variant appearance in text: MCH: L17P
PubMed Link: 18301778
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000329406.4 c.49_50delinsGG p.Leu17Gly missense_variant 1/3 -
NM_002674.4 c.49_50delinsGG p.Leu17Gly missense_variant 1/3 -