Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.N674S
Back to variants list

NIPBL

NM_133433.4:p.N674S

Associated Papers

Somatic Mutations of Thymic Epithelial Tumors Identified in the Prospective THYMOGENE Trial.

Pardini E et al.

Thoracic Cancer, 2025

41405018 (PubMed )
Supplement: TCA-16-e70205-s001.xlsx › S4

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM15_ESM.xlsx › Supplementary_Data_12

Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance.

Bock I et al.

Gene, 2016

Identification of HPV integration and gene mutation in HeLa cell line by integrated analysis of RNA-Seq and MS/MS data.

Sun H et al.

Journal of Proteome Research, 2015

25698088 (PubMed )
Supplement: pr500944c_si_009.xlsx › SNV

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A082-01A.domain

Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome.

Miyake N et al.

American Journal of Medical Genetics. Part A, 2005

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

Gillis LA et al.

American Journal of Human Genetics, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."