LRPPRC c.2481A>G ;(p.P827=)

Variant ID: 2-44170849-T-C

NM_133259.3(LRPPRC):c.2481A>G;(p.P827=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports
Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I
Publication Date: 2016-07-26

Variant appearance in text: LRPPRC: P827P; rs115993634
PubMed Link: 27456059
Variant Present in the following documents:
  • srep30457-s2.xls, sheet 2
  • srep30457-s2.xls, sheet 1
View BVdb publication page



A genome-wide map of hyper-edited RNA reveals numerous new sites.

Nature Communications
Porath, Hagit T HT; Carmi, Shai S; Levanon, Erez Y EY
Publication Date: 2014-08-27

Variant appearance in text: LRPPRC: P827P
PubMed Link: 25158696
Variant Present in the following documents:
  • ncomms5726-s4.xls, sheet 1
View BVdb publication page



PINK1-Interacting Proteins: Proteomic Analysis of Overexpressed PINK1.

Parkinson'S Disease
Rakovic, Aleksandar A; Grünewald, Anne A; Voges, Lisa L; Hofmann, Sarah S; Orolicki, Slobodanka S; Lohmann, Katja K; Klein, Christine C
Publication Date: 2011-03-16

Variant appearance in text: LRPPRC: 2481A>G; P827P; rs115993634
PubMed Link: 21437181
Variant Present in the following documents:
  • Main text
  • PD2011-153979.pdf
View BVdb publication page