Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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