Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.R228Q
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XPA

NM_000380.4:p.R228Q

Associated Papers

Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Bakouny Z et al.

Nature Communications, 2021

33547292 (PubMed )
Supplement: 41467_2021_21068_MOESM4_ESM.xlsx › oncop_maf

Potentially functional variants in nucleotide excision repair pathway genes predict platinum treatment response of Chinese ovarian cancer patients.

Li H et al.

Carcinogenesis, 2020

The multi-faceted high order polymorphic synergistic interactions among nucleotide excision repair genes increase the risk of lung cancer in North Indians.

Lawania S et al.

Mutation Research, 2019

Association of XPA Polymorphisms Towards Lung Cancer Susceptibility and its Predictive Role in Overall Survival of North Indians.

Lawania S et al.

Biochemical Genetics, 2018

Analysis of DNA binding by human factor xeroderma pigmentosum complementation group A (XPA) provides insight into its interactions with nucleotide excision repair substrates.

Sugitani N et al.

The Journal of Biological Chemistry, 2017

XPA: A key scaffold for human nucleotide excision repair.

Sugitani N et al.

Dna Repair, 2016

Poly(ADP-ribose)-mediated interplay of XPA and PARP1 leads to reciprocal regulation of protein function.

Fischer JM et al.

The Febs Journal, 2014

NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Reinhold WC et al.

Plos One, 2014

25032700 (PubMed )
Supplement: pone.0101670.s002.xlsx › Sup_Table_2

Proteome-wide analysis of amino acid variations that influence protein lysine acetylation.

Suo SB et al.

Journal of Proteome Research, 2013

23298314 (PubMed )
Supplement: pr301007j_si_006.pdf

A functional analysis of G23A polymorphism and the alternative splicing in the expression of the XPA gene.

Butkiewicz D et al.

Cellular & Molecular Biology Letters, 2010

Pterygium and genetic polymorphisms of the DNA repair enzymes XRCC1, XPA, and XPD.

Chiang CC et al.

Molecular Vision, 2010

Moving toward individualized therapy based on NER polymorphisms that predict platinum sensitivity in ovarian cancer patients.

Saldivar JS et al.

Gynecologic Oncology, 2007

Nucleotide excision repair pathway review I: implications in ovarian cancer and platinum sensitivity.

Saldivar JS et al.

Gynecologic Oncology, 2007

Single nucleotide polymorphism analysis of the nucleotide excision repair genes XPC, XPA, and XPG in the Indian population.

Gowda S et al.

Human Biology, 2007

Recognition of helical kinks by xeroderma pigmentosum group A protein triggers DNA excision repair.

Camenisch U et al.

Nature Structural & Molecular Biology, 2006

XP-A cells complemented with Arg228Gln and Val234Leu polymorphic XPA alleles repair BPDE-induced DNA damage better than cells complemented with the wild type allele.

Porter PC et al.

Dna Repair, 2005

Polymorphisms in DNA repair and environmental interactions.

de Boer JG

Mutation Research, 2002

Polymorphisms in the human xeroderma pigmentosum group A gene and their impact on cell survival and nucleotide excision repair.

Mellon I et al.

Dna Repair, 2002

Identification of four single nucleotide polymorphisms in DNA repair genes: XPA and XPB (ERCC3) in Polish population.

Butkiewicz D et al.

Human Mutation, 2000

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