PRRT2 c.373_375delinsTGT ;(p.R125C)

Variant ID: 16-29824748-AGG-TGT

NM_145239.2(PRRT2):c.373_375delinsTGT;(p.R125C)

This variant was identified in 4 publications

View GRCh38 version.



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

Publications:

Identification of Key Regions Mediating Human Melatonin Type 1 Receptor Functional Selectivity Revealed by Natural Variants.

Acs Pharmacology & Translational Science
Hegron, Alan A; Huh, Eunna E; Deupi, Xavier X; Sokrat, Badr B; Gao, Wenwen W; Le Gouill, Christian C; Canouil, Mickaël M; Boissel, Mathilde M; Charpentier, Guillaume G; Roussel, Ronan R; Balkau, Beverley B; Froguel, Philippe P; Plouffe, Bianca B; Bonnefond, Amélie A; Lichtarge, Olivier O; Jockers, Ralf R; Bouvier, Michel M
Publication Date: 2021-10-08

Variant appearance in text: PKC: R125C
PubMed Link: 34661078
Variant Present in the following documents:
  • pt1c00157.pdf
View BVdb publication page


Genotype-phenotype analysis of LMNA-related diseases predicts phenotype-selective alterations in lamin phosphorylation.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Lin, Eric W EW; Brady, Graham F GF; Kwan, Raymond R; Nesvizhskii, Alexey I AI; Omary, M Bishr MB
Publication Date: 2020-07

Variant appearance in text: PKC: R125C
PubMed Link: 32413188
Variant Present in the following documents:
  • Main text
View BVdb publication page


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: PKC: R125C
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page


PKC412 normalizes mutation-related keratin filament disruption and hepatic injury in mice by promoting keratin-myosin binding.

Hepatology (Baltimore, Md.)
Kwan, Raymond R; Chen, Lu L; Looi, Koksun K; Tao, Guo-Zhong GZ; Weerasinghe, Sujith V SV; Snider, Natasha T NT; Conti, Mary Anne MA; Adelstein, Robert S RS; Xie, Qing Q; Omary, M Bishr MB
Publication Date: 2015-12

Variant appearance in text: PKC: R125C
PubMed Link: 26126491
Variant Present in the following documents:
  • Main text
View BVdb publication page