Varaico: Literature-Extracted Genetic Variants

Gene:KRT8
Variant:p.S31A
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KRT8

NM_002273.4:p.S31A

Associated Papers

Unravelling morphoea aetiopathogenesis by next-generation sequencing of paired skin biopsies.

Saracino AM et al.

Archives of Dermatological Research, 2023

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL8

Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation.

Ugwu N et al.

Hgg Advances, 2021

33912852 (PubMed )
Supplement: mmc2.xlsx › Sheet1

UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin.

Saini N et al.

Plos Genetics, 2021

33444353 (PubMed )
Supplement: pgen.1009302.s014.xlsx › S5_Table

Proteogenomic Analysis Unveils the HLA Class I-Presented Immunopeptidome in Melanoma and EGFR-Mutant Lung Adenocarcinoma.

Qi YA et al.

Molecular & Cellular Proteomics : Mcp, 2021

34391887 (PubMed )
Supplement: mmc3.xlsx › RA007.all.somatic

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL4

Centromeric cohesion failure invokes a conserved choreography of chromosomal mis-segregations in pancreatic neuroendocrine tumor.

Quevedo R et al.

Genome Medicine, 2020

32345369 (PubMed )
Supplement: 13073_2020_730_MOESM5_ESM.xlsx › SD._Exome_SNVs

Development of Personalized Therapeutic Strategies by Targeting Actionable Vulnerabilities in Metastatic and Chemotherapy-Resistant Breast Cancer PDXs.

Punzi S et al.

Cells, 2019

31216647 (PubMed )
Supplement: cells-08-00605-s001.zip › cells-502088-SI › TableS2.xlsx › EXOME-seq_PDXs

Evolutionary history of human colitis-associated colorectal cancer.

Baker AM et al.

Gut, 2019

29991641 (PubMed )
Supplement: gutjnl-2018-316191supp005.xlsx › UC03

Circulating tumor DNA as a marker of treatment response in BRAF V600E mutated non-melanoma solid tumors.

Ahlborn LB et al.

Oncotarget, 2018

30220966 (PubMed )
Supplement: oncotarget-09-32570-s003.xlsx › Sheet1

Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.

Wolff RK et al.

Genes, Chromosomes & Cancer, 2018

29575536 (PubMed )
Supplement: GCC-57-366-s002.xlsx › Adenoma

Integrative genomic and transcriptomic analysis of leiomyosarcoma.

Chudasama P et al.

Nature Communications, 2018

29321523 (PubMed )
Supplement: 41467_2017_2602_MOESM4_ESM.xlsx › 4_Somatic_SNVs

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Kürschner G et al.

Oncotarget, 2017

29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations

Prediction and prioritization of neoantigens: integration of RNA sequencing data with whole-exome sequencing.

Karasaki T et al.

Cancer Science, 2017

27960040 (PubMed )
Supplement: CAS-108-170-s006.xlsx › Suppl_Table_3

A Case of Pulmonary Langerhans Cell Sarcoma Simultaneously Diagnosed with Cutaneous Langerhans Cell Histiocytosis Studied by Whole-Exome Sequencing.

Kim SW et al.

Acta Haematologica, 2017

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_2_late_met_4

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

Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Witkiewicz AK et al.

Nature Communications, 2015

25855536 (PubMed )
Supplement: ncomms7744-s2.xlsx › MUTATIONS_ALL_CASES

Genome Analysis of Osteosarcoma Progression Samples Identifies FGFR1 Overexpression as a Potential Treatment Target and CHM as a Candidate Tumor Suppressor Gene.

Barøy T et al.

Plos One, 0

27685995 (PubMed )
Supplement: pone.0163859.s005.xlsx › OS106
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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."