LNPEP c.256T>C ;(p.S86P)

Variant ID: 5-96315078-T-C

NM_005575.2(LNPEP):c.256T>C;(p.S86P)

This variant was identified in 4 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: rs3797799
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: S86P
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: rs3797799
PubMed Link: 19578876
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: LNPEP: S86P; rs3797799
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File011.xls, sheet 4
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 4
View BVdb publication page