PKD1 c.8447T>C ;(p.L2816P)

Variant ID: 16-2153611-A-G

NM_001009944.2(PKD1):c.8447T>C;(p.L2816P)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Are transient protein-protein interactions more dispensable?

Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04

Variant appearance in text: PKD1: 8447T>C; Leu2816Pro
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
View BVdb publication page



Estimating dispensable content in the human interactome.

Nature Communications
Ghadie, Mohamed M; Xia, Yu Y
Publication Date: 2019-07-19

Variant appearance in text: PKD1: 8447T>C; Leu2816Pro
PubMed Link: 31324802
Variant Present in the following documents:
  • 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
  • 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4
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: L2816P
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: L2816P
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Genome-wide mutation profiles of colorectal tumors and associated liver metastases at the exome and transcriptome levels.

Oncotarget
Lim, Byungho B; Mun, Jihyeob J; Kim, Jeong-Hwan JH; Kim, Chan Wook CW; Roh, Seon Ae SA; Cho, Dong-Hyung DH; Kim, Yong Sung YS; Kim, Seon-Young SY; Kim, Jin Cheon JC
Publication Date: 2015-09-08

Variant appearance in text: PKD1: L2816P
PubMed Link: 26109429
Variant Present in the following documents:
  • oncotarget-06-22179-s002.xls, sheet 4
View BVdb publication page



Altered trafficking and stability of polycystins underlie polycystic kidney disease.

The Journal Of Clinical Investigation
Cai, Yiqiang Y; Fedeles, Sorin V SV; Dong, Ke K; Anyatonwu, Georgia G; Onoe, Tamehito T; Mitobe, Michihiro M; Gao, Jian-Dong JD; Okuhara, Dayne D; Tian, Xin X; Gallagher, Anna-Rachel AR; Tang, Zhangui Z; Xie, Xiaoli X; Lalioti, Maria D MD; Lee, Ann-Hwee AH; Ehrlich, Barbara E BE; Somlo, Stefan S
Publication Date: 2014-12

Variant appearance in text: PKD1: L2816P
PubMed Link: 25365220
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.

American Journal Of Human Genetics
Rossetti, S S; Strmecki, L L; Gamble, V V; Burton, S S; Sneddon, V V; Peral, B B; Roy, S S; Bakkaloglu, A A; Komel, R R; Winearls, C G CG; Harris, P C PC
Publication Date: 2001-01

Variant appearance in text: PKD1: L2816P
PubMed Link: 11115377
Variant Present in the following documents:
  • Main text
View BVdb publication page