PKD1 c.9067A>G ;(p.M3023V)

Variant ID: 16-2152516-T-C

NM_001009944.2(PKD1):c.9067A>G;(p.M3023V)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Analysis of mutations in six Chinese families with autosomal dominant polycystic kidney disease.

American Journal Of Translational Research
Wang, Hanlu H; Dai, Sen S; Zhang, Jianhui J; Li, Yi Y; Gan, Yumian Y; Lu, Tao T; Zhu, Yaobin Y; Wu, Jiabin J; Lin, Ning N; Tang, Faqiang F; Luo, Jiewei J
Publication Date: 2020

Variant appearance in text: PKD1: 9067A>G; Met3023Val
PubMed Link: 33437386
Variant Present in the following documents:
  • Main text
View BVdb publication page



Examining the Role of Polymorphisms in Exon 25 of the PKD1 Gene in the Pathogenesis of Autosomal Dominant Polycystic Kidney Disease in ranian Patients.

Reports Of Biochemistry & Molecular Biology
Bagheri, Morteza M; Makhdoomi, Khadijeh K; Taghizadeh Afshari, Ali A; Nikibakhsh, Ahmad Ali AA; Abdi Rad, Isa I
Publication Date: 2019-07

Variant appearance in text: rs17135779
PubMed Link: 31832432
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: PKD1: M3023V
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: PKD1: M3023V
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
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: PKD1: M3023V; rs17135779
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome.

Cell Reports
Fumagalli, Debora D; Gacquer, David D; Rothé, Françoise F; Lefort, Anne A; Libert, Frederick F; Brown, David D; Kheddoumi, Naima N; Shlien, Adam A; Konopka, Tomasz T; Salgado, Roberto R; Larsimont, Denis D; Polyak, Kornelia K; Willard-Gallo, Karen K; Desmedt, Christine C; Piccart, Martine M; Abramowicz, Marc M; Campbell, Peter J PJ; Sotiriou, Christos C; Detours, Vincent V
Publication Date: 2015-10-13

Variant appearance in text: rs17135779
PubMed Link: 26440892
Variant Present in the following documents:
  • mmc3.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: PKD1: M3023V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

Journal Of The American Society Of Nephrology : Jasn
Rossetti, Sandro S; Hopp, Katharina K; Sikkink, Robert A RA; Sundsbak, Jamie L JL; Lee, Yean Kit YK; Kubly, Vickie V; Eckloff, Bruce W BW; Ward, Christopher J CJ; Winearls, Christopher G CG; Torres, Vicente E VE; Harris, Peter C PC
Publication Date: 2012-05

Variant appearance in text: PKD1: 9067A>G; Met3023Val
PubMed Link: 22383692
Variant Present in the following documents:
  • Main text
View BVdb publication page