PKD1 c.8898G>C ;(p.E2966D)

Variant ID: 16-2152865-C-G

NM_001009944.2(PKD1):c.8898G>C;(p.E2966D)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: PKD1: 8898G>C; Glu2966Asp
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Characterizing the morbid genome of ciliopathies.

Genome Biology
Shaheen, Ranad R; Szymanska, Katarzyna K; Basu, Basudha B; Patel, Nisha N; Ewida, Nour N; Faqeih, Eissa E; Al Hashem, Amal A; Derar, Nada N; Alsharif, Hadeel H; Aldahmesh, Mohammed A MA; Alazami, Anas M AM; Hashem, Mais M; Ibrahim, Niema N; Abdulwahab, Firdous M FM; Sonbul, Rawda R; Alkuraya, Hisham H; Alnemer, Maha M; Al Tala, Saeed S; Al-Husain, Muneera M; Morsy, Heba H; Seidahmed, Mohammed Zain MZ; Meriki, Neama N; Al-Owain, Mohammed M; AlShahwan, Saad S; Tabarki, Brahim B; Salih, Mustafa A MA; , ; Faquih, Tariq T; El-Kalioby, Mohamed M; Ueffing, Marius M; Boldt, Karsten K; Logan, Clare V CV; Parry, David A DA; Al Tassan, Nada N; Monies, Dorota D; Megarbane, Andre A; Abouelhoda, Mohamed M; Halees, Anason A; Johnson, Colin A CA; Alkuraya, Fowzan S FS
Publication Date: 2016-11-28

Variant appearance in text: rs13337123
PubMed Link: 27894351
Variant Present in the following documents:
  • 13059_2016_1099_MOESM7_ESM.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: N/A
PubMed Link: 27527004
Variant Present in the following documents:
View BVdb publication page



Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Scientific Reports
Carrera, Paola P; Calzavara, Silvia S; Magistroni, Riccardo R; den Dunnen, Johan T JT; Rigo, Francesca F; Stenirri, Stefania S; Testa, Francesca F; Messa, Piergiorgio P; Cerutti, Roberta R; Scolari, Francesco F; Izzi, Claudia C; Edefonti, Alberto A; Negrisolo, Susanna S; Benetti, Elisa E; Alibrandi, Maria Teresa Sciarrone MT; Manunta, Paolo P; Boletta, Alessandra A; Ferrari, Maurizio M
Publication Date: 2016-08-08

Variant appearance in text: PKD1: 8898G>C; Glu2966Asp; rs13337123
PubMed Link: 27499327
Variant Present in the following documents:
  • srep30850-s2.xlsx, 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: N/A
PubMed Link: 26659599
Variant Present in the following documents:
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: E2966D
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 25390934
Variant Present in the following documents:
View BVdb publication page



High Resolution Melt analysis for mutation screening in PKD1 and PKD2.

Bmc Nephrology
Bataille, Stanislas S; Berland, Yvon Y; Fontes, Michel M; Burtey, Stéphane S
Publication Date: 2011-10-18

Variant appearance in text: PKD1: 8898G>C; Glu2966Asp
PubMed Link: 22008521
Variant Present in the following documents:
  • Main text
  • 1471-2369-12-57.pdf
View BVdb publication page