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PALB2 c.79G>C ;(p.E27Q)
Variant ID: 16-23649420-C-G
NM_024675.3(
PALB2
):c.79G>C;(p.E27Q)
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:
Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.
Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04
Variant appearance in text: PALB2: Glu27Gln
PubMed Link:
36333792
Variant Present in the following documents:
12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: PALB2: E27Q
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018
Variant appearance in text: PALB2: 79G>C; Glu27Gln
PubMed Link:
29641532
Variant Present in the following documents:
pone.0194098.s003.xlsx, sheet 2
View BVdb publication page