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PALB2 c.3152T>G ;(p.I1051S)
Variant ID: 16-23625374-A-C
NM_024675.3(
PALB2
):c.3152T>G;(p.I1051S)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction.
Frontiers In Molecular Biosciences
Boonen, Rick A C M RACM; Vreeswijk, Maaike P G MPG; van Attikum, Haico H
Publication Date: 2020
Variant appearance in text: PALB2: 3152T>G; I1051S
PubMed Link:
33195396
Variant Present in the following documents:
fmolb-07-00169.pdf
View BVdb publication page
Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.
Nature Communications
Boonen, Rick A C M RACM; Rodrigue, Amélie A; Stoepker, Chantal C; Wiegant, Wouter W WW; Vroling, Bas B; Sharma, Milan M; Rother, Magdalena B MB; Celosse, Nandi N; Vreeswijk, Maaike P G MPG; Couch, Fergus F; Simard, Jacques J; Devilee, Peter P; Masson, Jean-Yves JY; van Attikum, Haico H
Publication Date: 2019-11-22
Variant appearance in text: PALB2: I1051S
PubMed Link:
31757951
Variant Present in the following documents:
41467_2019_13194_MOESM1_ESM.pdf
41467_2019_13194_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page
Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study.
Human Genomics
Yi, Dandan D; Xu, Lei L; Luo, Jiaqi J; You, Xiaobin X; Huang, Tao T; Zi, Yi Y; Li, Xiaoting X; Wang, Ru R; Zhong, Zaixuan Z; Tang, Xiaoqiao X; Li, Ang A; Shi, Yujian Y; Rao, Jianmei J; Zhang, Yifen Y; Sang, Jianfeng J
Publication Date: 2019-01-10
Variant appearance in text: PALB2: 3152T>G; Ile1051Ser
PubMed Link:
30630526
Variant Present in the following documents:
40246_2018_186_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page