PKD1 c.9022G>A ;(p.V3008M)

Variant ID: 16-2152561-C-T

NM_001009944.2(PKD1):c.9022G>A;(p.V3008M)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: PKD1: V3008M; rs117896488
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: PKD1: V3008M
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



YAP1 amplification as a prognostic factor of definitive chemoradiotherapy in nonsurgical esophageal squamous cell carcinoma.

Cancer Medicine
Dai, Honghai H; Shao, Yang W YW; Tong, Xiaoling X; Wu, Xue X; Pang, Jiaohui J; Feng, Alei A; Yang, Zhe Z
Publication Date: 2020-03

Variant appearance in text: PKD1: V3008M
PubMed Link: 31851786
Variant Present in the following documents:
  • CAM4-9-1628-s002.xlsx, sheet 1
View BVdb publication page



Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease.

Molecular Medicine Reports
Dong, Kexian K; Miao, Huanhuan H; Jia, Xueyuan X; Wu, Jie J; Wu, Han H; Sun, Jiawei J; Ji, Wei W; Su, Hui H; Xu, Lidan L; Zhang, Xuelong X; Zhu, Siqi S; Ji, Guohua G; Guan, Rongwei R; Wang, Hao H; Bai, Jing J; Yu, Jingcui J; Sun, Wenjing W; Zhou, Xianli X; Fu, Songbin S
Publication Date: 2019-04

Variant appearance in text: PKD1: V3008M
PubMed Link: 30720121
Variant Present in the following documents:
  • Main text
  • mmr-19-04-2671.pdf
View BVdb publication page



Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.

Plos One
Kinoshita, Moritoshi M; Higashihara, Eiji E; Kawano, Haruna H; Higashiyama, Ryo R; Koga, Daisuke D; Fukui, Takafumi T; Gondo, Nobuhisa N; Oka, Takehiko T; Kawahara, Kozo K; Rigo, Krisztina K; Hague, Tim T; Katsuragi, Kiyonori K; Sudo, Kimiyoshi K; Takeshi, Masahiko M; Horie, Shigeo S; Nutahara, Kikuo K
Publication Date: 2016

Variant appearance in text: PKD1: 9022G>A; V3008M
PubMed Link: 27835667
Variant Present in the following documents:
  • pone.0166288.s005.xls, 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: V3008M
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page



Identification of MMP1 as a novel risk factor for intracranial aneurysms in ADPKD using iPSC models.

Scientific Reports
Ameku, Tomonaga T; Taura, Daisuke D; Sone, Masakatsu M; Numata, Tomohiro T; Nakamura, Masahiro M; Shiota, Fumihiko F; Toyoda, Taro T; Matsui, Satoshi S; Araoka, Toshikazu T; Yasuno, Tetsuhiko T; Mae, Shin-Ichi S; Kobayashi, Hatasu H; Kondo, Naoya N; Kitaoka, Fumiyo F; Amano, Naoki N; Arai, Sayaka S; Ichisaka, Tomoko T; Matsuura, Norio N; Inoue, Sumiko S; Yamamoto, Takuya T; Takahashi, Kazutoshi K; Asaka, Isao I; Yamada, Yasuhiro Y; Ubara, Yoshifumi Y; Muso, Eri E; Fukatsu, Atsushi A; Watanabe, Akira A; Sato, Yasunori Y; Nakahata, Tatsutoshi T; Mori, Yasuo Y; Koizumi, Akio A; Nakao, Kazuwa K; Yamanaka, Shinya S; Osafune, Kenji K
Publication Date: 2016-07-15

Variant appearance in text: PKD1: V3008M
PubMed Link: 27418197
Variant Present in the following documents:
  • Main text
  • srep30013.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: PKD1: 9022G>A; V3008M
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
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: V3008M; rs117896488
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: PKD1: V3008M
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page