Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.A237V
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MEN1

NM_001370259.2:p.A237V

Associated Papers

Functional assessment of protein variants in structured domains by fluorescence cross-correlation spectroscopy.

Mateu-Regué À et al.

Scientific Reports, 2026

Genotype-phenotype correlation in multiple endocrine neoplasia type 1.

Worthy CC et al.

Jci Insight, 2025

39946193 (PubMed )
Supplement: jciinsight-10-176993-s056.pdf

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_35d_TISF

Alternative splicing generates isoform diversity in MEN1.

Ramachandran A et al.

Endocrine Oncology (bristol, England), 2024

Multi-omics analyses of MEN1 missense mutations identify disruption of menin-MLL and menin-JunD interactions as critical requirements for molecular pathogenicity.

Dreijerink KMA et al.

Epigenetics & Chromatin, 2022

35941657 (PubMed )
Supplement: 13072_2022_461_MOESM5_ESM.xlsx › Database_van_mutaties

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › gnomAD
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