PKD1 c.12460_12461delinsGC ;(p.R4154A)

Variant ID: 16-2140179-CG-GC

NM_001009944.2(PKD1):c.12460_12461delinsGC;(p.R4154A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Protein phosphatase 1α interacts with a novel ciliary targeting sequence of polycystin-1 and regulates polycystin-1 trafficking.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Luo, Chong C; Wu, Maoqing M; Su, Xuefeng X; Yu, Fangyan F; Brautigan, David L DL; Chen, Jianghua J; Zhou, Jing J
Publication Date: 2019-09

Variant appearance in text: PKD1: R4154A
PubMed Link: 31157564
Variant Present in the following documents:
  • Main text
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