PKD1 c.8347G>C ;(p.A2783P)

Variant ID: 16-2153711-C-G

NM_001009944.2(PKD1):c.8347G>C;(p.A2783P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.

Scientific Reports
Kim, Hyunsuk H; Park, Hayne Cho HC; Ryu, Hyunjin H; Kim, Hyunho H; Lee, Hyun-Seob HS; Heo, Jongho J; Lee, Chung C; Kim, Nayoung K D NKD; Park, Woong-Yang WY; Hwang, Young-Hwan YH; Lee, Kyu Beck KB; Oh, Kook-Hwan KH; Oh, Yun Kyu YK; Ahn, Curie C
Publication Date: 2019-11-18

Variant appearance in text: PKD1: 8347G>C; Ala2783Pro
PubMed Link: 31740684
Variant Present in the following documents:
  • 41598_2019_52474_MOESM1_ESM.pdf
View BVdb publication page



Expression and secretion of CXCL12 are enhanced in autosomal dominant polycystic kidney disease.

Bmb Reports
Kim, Hyunho H; Sung, Jinmo J; Kim, Hyunsuk H; Ryu, Hyunjin H; Cho Park, Hayne H; Oh, Yun Kyu YK; Lee, Hyun-Seob HS; Oh, Kook-Hwan KH; Ahn, Curie C
Publication Date: 2019-07

Variant appearance in text: PKD1: 8347G>C; A2783P
PubMed Link: 31186083
Variant Present in the following documents:
  • Main text
  • bmb-52-463.pdf
View BVdb publication page