PRKCA c.1465A>G ;(p.M489V)

Variant ID: 17-64738819-A-G

NM_002737.2(PRKCA):c.1465A>G;(p.M489V)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Enhanced activity of Alzheimer disease-associated variant of protein kinase Cα drives cognitive decline in a mouse model.

Nature Communications
Lordén, Gema G; Wozniak, Jacob M JM; Doré, Kim K; Dozier, Lara E LE; Cates-Gatto, Chelsea C; Patrick, Gentry N GN; Gonzalez, David J DJ; Roberts, Amanda J AJ; Tanzi, Rudolph E RE; Newton, Alexandra C AC
Publication Date: 2022-11-23

Variant appearance in text: rs34406842
PubMed Link: 36418293
Variant Present in the following documents:
  • Main text
  • 41467_2022_34679_MOESM1_ESM.pdf
  • 41467_2022_34679_MOESM3_ESM.pdf
  • 41467_2022_Article_34679.pdf
  • 41467_2022_34679_MOESM2_ESM.pdf
View BVdb publication page



Targeting Protein Kinase C for Cancer Therapy.

Cancers
He, Sijia S; Li, Qi Q; Huang, Qian Q; Cheng, Jin J
Publication Date: 2022-02-22

Variant appearance in text: PKCα: M489V
PubMed Link: 35267413
Variant Present in the following documents:
  • cancers-14-01104.pdf
View BVdb publication page



SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: PRKCA: M489V
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Conventional protein kinase C in the brain: repurposing cancer drugs for neurodegenerative treatment?

Neuronal Signaling
Lordén, Gema G; Newton, Alexandra C AC
Publication Date: 2021-12

Variant appearance in text: PKCα: M489V
PubMed Link: 34737895
Variant Present in the following documents:
  • Main text
  • ns-05-ns20210036C.pdf
View BVdb publication page



Protein kinase Cα gain-of-function variant in Alzheimer's disease displays enhanced catalysis by a mechanism that evades down-regulation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Callender, Julia A JA; Yang, Yimin Y; Lordén, Gema G; Stephenson, Natalie L NL; Jones, Alexander C AC; Brognard, John J; Newton, Alexandra C AC
Publication Date: 2018-06-12

Variant appearance in text: PKCα: M489V
PubMed Link: 29844158
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protein kinase C: perfectly balanced.

Critical Reviews In Biochemistry And Molecular Biology
Newton, Alexandra C AC
Publication Date: 2018-04

Variant appearance in text: PKCα: M489V
PubMed Link: 29513138
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: PRKCA: M489V; rs34406842
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 8
View BVdb publication page



Gain-of-function mutations in protein kinase Cα (PKCα) may promote synaptic defects in Alzheimer's disease.

Science Signaling
Alfonso, Stephanie I SI; Callender, Julia A JA; Hooli, Basavaraj B; Antal, Corina E CE; Mullin, Kristina K; Sherman, Mathew A MA; Lesné, Sylvain E SE; Leitges, Michael M; Newton, Alexandra C AC; Tanzi, Rudolph E RE; Malinow, Roberto R
Publication Date: 2016-05-10

Variant appearance in text: PKCα: M489V; rs34406842
PubMed Link: 27165780
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: rs34406842
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: PRKCA: M489V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page