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PKD1 c.2135G>C ;(p.G712A)
Variant ID: 16-2164889-C-G
NM_001009944.2(
PKD1
):c.2135G>C;(p.G712A)
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:
Characterization of DNA variants in the human kinome in breast cancer.
Scientific Reports
Agarwal, Divyansh D; Qi, Yuan Y; Jiang, Tingting T; Liu, Xiuping X; Shi, Weiwei W; Wali, Vikram B VB; Turk, Benjamin B; Ross, Jeffrey S JS; Fraser Symmans, W W; Pusztai, Lajos L; Hatzis, Christos C
Publication Date: 2015-09-30
Variant appearance in text: PKD1: G712A
PubMed Link:
26420498
Variant Present in the following documents:
srep14736-s2.xls, sheet 44
View BVdb publication page
Both the establishment and maintenance of neuronal polarity require the activity of protein kinase D in the Golgi apparatus.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Yin, Dong-Min DM; Huang, Yan-Hua YH; Zhu, Yan-Bing YB; Wang, Yun Y
Publication Date: 2008-08-27
Variant appearance in text: PKD1: G712A
PubMed Link:
18753385
Variant Present in the following documents:
Main text
View BVdb publication page