LNPEP c.1781A>T ;(p.N594I)

Variant ID: 5-96339246-A-T

NM_005575.2(LNPEP):c.1781A>T;(p.N594I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: rs12520455
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: LNPEP: N594I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populations.

Human Genetics
Johnson, Matthew P MP; Roten, Linda T LT; Dyer, Thomas D TD; East, Christine E CE; Forsmo, Siri S; Blangero, John J; Brennecke, Shaun P SP; Austgulen, Rigmor R; Moses, Eric K EK
Publication Date: 2009-11

Variant appearance in text: rs12520455
PubMed Link: 19578876
Variant Present in the following documents:
  • Main text
View BVdb publication page