Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP4-9
Variant:p.D18V
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KRTAP4-9

NM_001146041.1:p.D18V

Associated Papers

Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.

Gibson LM et al.

International Journal of Molecular Sciences, 2025

40806338 (PubMed )
Supplement: ijms-26-07208-s001.zip › Table_S2.xlsx › Colorectal_CHASM_p-values

Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.

Yeo NK et al.

Frontiers in Genetics, 2024

Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children's Oncology Group AREN18B5-Q.

Murphy AJ et al.

Nature Communications, 2023

38110397 (PubMed )
Supplement: 41467_2023_43730_MOESM7_ESM.xlsx › SNV

TRIM28 congenital predisposition to Wilms' tumor: novel mutations and presentation in a sibling pair.

Moore C et al.

Cold Spring Harbor Molecular Case Studies, 2020

32699065 (PubMed )
Supplement: supp_mcs.a004796_Supplemental_Table_1.xlsx › tier1_cosmic_ge5_coding.vs

Identification of somatic alterations in lipoma using whole exome sequencing.

Kanojia D et al.

Scientific Reports, 2019

31591430 (PubMed )
Supplement: 41598_2019_50805_MOESM2_ESM.xlsx › SuppTable_10

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM2_ESM.xlsx › S2

Somatic Mutations Profile of a Young Patient With Metastatic Urothelial Carcinoma Reveals Mutations in Genes Involved in Ion Channels.

Sharma J et al.

Frontiers in Oncology, 2019

31192134 (PubMed )
Supplement: Table_1.XLSX › Exonic

Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants.

Delgado-Vega AM et al.

Scientific Reports, 2018

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 › M121224

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
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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."