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PKD1 c.3444G>C ;(p.P1148=)
Variant ID: 16-2161724-C-G
NM_001009944.2(
PKD1
):c.3444G>C;(p.P1148=)
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:
Evolving neoantigen profiles in colorectal cancers with DNA repair defects.
Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28
Variant appearance in text: PKD1: P1148P
PubMed Link:
31253177
Variant Present in the following documents:
13073_2019_654_MOESM2_ESM.xlsx, sheet 36
View BVdb publication page
Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease.
Molecular Medicine Reports
Dong, Kexian K; Miao, Huanhuan H; Jia, Xueyuan X; Wu, Jie J; Wu, Han H; Sun, Jiawei J; Ji, Wei W; Su, Hui H; Xu, Lidan L; Zhang, Xuelong X; Zhu, Siqi S; Ji, Guohua G; Guan, Rongwei R; Wang, Hao H; Bai, Jing J; Yu, Jingcui J; Sun, Wenjing W; Zhou, Xianli X; Fu, Songbin S
Publication Date: 2019-04
Variant appearance in text: PKD1: P1148P
PubMed Link:
30720121
Variant Present in the following documents:
Main text
mmr-19-04-2671.pdf
View BVdb publication page