Varaico: Literature-Extracted Genetic Variants

Gene:RAB40A
Variant:p.K250ins1
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RAB40A

NM_080879.3:p.K250ins1

Associated Papers

Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families.

Aslam F et al.

Scientific Reports, 2026

41606223 (PubMed )
Supplement: 41598_2026_37808_MOESM5_ESM.xlsx › Sheet1

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc4.xlsx › Supplementary_Table_4

Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Heft Neal ME et al.

Bmc Cancer, 2021

34051734 (PubMed )
Supplement: 12885_2021_8370_MOESM11_ESM.xlsx › Sheet1
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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."