Varaico: Literature-Extracted Genetic Variants

Gene:PARP4
Variant:p.Q1059R
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PARP4

NM_006437.4:p.Q1059R

Associated Papers

Somatic Mosaicism Patterns Define Clinical-Surgical Subtypes of Focal Cortical Dysplasia Through Cell-Type-Specific Expression.

Bernardino Garcia CA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Genomic and transcriptomic landscapes of metastatic neuroendocrine neoplasms from distinct primary sites and their clinical implications.

Wee K et al.

Scientific Reports, 2025

40328872 (PubMed )
Supplement: 41598_2025_549_MOESM4_ESM.xlsx › Sheet_1

Lung-MAP Next-Generation Sequencing Analysis of Advanced Squamous Cell Lung Cancers (SWOG S1400).

Kozono D et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2024

Characterization of novel CTNNB1 mutation in Craniopharyngioma by whole-genome sequencing.

He J et al.

Molecular Cancer, 2021

34922552 (PubMed )
Supplement: 12943_2021_1468_MOESM6_ESM.xlsx › Table_S5

Analysis of clinical characteristics and genetic testing in patients with acute fatty liver of pregnancy: a retrospective study.

Shi Y et al.

Bmc Pregnancy and Childbirth, 2021

34496798 (PubMed )
Supplement: 12884_2021_4095_MOESM3_ESM.xlsx › PASS_annova

Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Xing Y et al.

Plos Neglected Tropical Diseases, 2020

33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families

Dynamics of genomic and immune responses during primary immunotherapy resistance in mismatch repair-deficient tumors.

Takahashi N et al.

Cold Spring Harbor Molecular Case Studies, 2020

33028646 (PubMed )
Supplement: supp_mcs.a005678_Supplemental_Tables_.xlsx › Supplementary_Table_S2

Whole genome sequencing of colorectal neuroendocrine tumors and in-depth mutational analyses.

Wang TT et al.

Medical Oncology (northwood, London, England), 2020

The molecular landscape of ETMR at diagnosis and relapse.

Lambo S et al.

Nature, 2019

31802000 (PubMed )
Supplement: NIHMS1541318-supplement-Supplementary_Table_5.xlsx › Somatic_SNVs_indels_primary

POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.

Calvete O et al.

Journal of the American Heart Association, 2019

Mutational signatures and the genomic landscape of betel quid chewing-associated tongue carcinoma.

Zhang W et al.

Cancer Medicine, 2019

30672146 (PubMed )
Supplement: CAM4-8-701-s012.xlsx › Table_S11

The genomic landscape of TERT promoter wildtype-IDH wildtype glioblastoma.

Diplas BH et al.

Nature Communications, 2018

29802247 (PubMed )
Supplement: 41467_2018_4448_MOESM11_ESM.xlsx › 8_SNV_WGS

Genomic profiling of multiple sequentially acquired tumor metastatic sites from an "exceptional responder" lung adenocarcinoma patient reveals extensive genomic heterogeneity and novel somatic variants driving treatment response.

Biswas R et al.

Cold Spring Harbor Molecular Case Studies, 2016

27900369 (PubMed )
Supplement: supp_mcs.a001263_SuppTable_S3.xlsx › Supplementary_Table_S3_A

A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.

Lu C et al.

Cold Spring Harbor Molecular Case Studies, 2016

27148581 (PubMed )
Supplement: supp_2.1.a000687_Supp_Table_2.xlsx › germline.missense

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Villa F et al.

Immunity & Ageing : I & A, 2014

25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_ESM.xls › Sheet1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."