PKD1 c.170G>T ;(p.R57L)

Variant ID: 16-2185521-C-A

NM_001009944.2(PKD1):c.170G>T;(p.R57L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Cell
Creixell, Pau P; Schoof, Erwin M EM; Simpson, Craig D CD; Longden, James J; Miller, Chad J CJ; Lou, Hua Jane HJ; Perryman, Lara L; Cox, Thomas R TR; Zivanovic, Nevena N; Palmeri, Antonio A; Wesolowska-Andersen, Agata A; Helmer-Citterich, Manuela M; Ferkinghoff-Borg, Jesper J; Itamochi, Hiroaki H; Bodenmiller, Bernd B; Erler, Janine T JT; Turk, Benjamin E BE; Linding, Rune R
Publication Date: 2015-09-24

Variant appearance in text: PKD1: R57L
PubMed Link: 26388441
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Naturally occurring mutations alter the stability of polycystin-1 polycystic kidney disease (PKD) domains.

The Journal Of Biological Chemistry
Ma, Liang L; Xu, Meixiang M; Forman, Julia R JR; Clarke, Jane J; Oberhauser, Andres F AF
Publication Date: 2009-11-20

Variant appearance in text: PKD1: R57L
PubMed Link: 19759016
Variant Present in the following documents:
  • Main text
  • zbc32942.pdf
View BVdb publication page