Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.K1290_V1291Splc
Back to variants list

NF1

NM_001042492.3:p.K1290_V1291Splc

Associated Papers

Comprehensive analysis of clinical, pathological, and molecular features in chronic myelomonocytic leukemia: frequent ASXL1 and NRAS mutations and higher mutation burden in myeloproliferative CMML compared to myelodysplastic CMML.

Jeong Y

Leukemia & Lymphoma, 2025

39819262 (PubMed )
Supplement: supplement_1.pdf

Independent NF1 mutations underlie café-au-lait macule development in a woman with segmental NF1.

Freret ME et al.

Neurology. Genetics, 2018

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.

Ars E et al.

Journal of Medical Genetics, 2003

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."