Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.L238F
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KRIT1

NM_194454.3:p.L238F

Associated Papers

Dual recruitment of two CCM2 molecules to KRIT1 suppresses KLF4 expression.

Huet-Calderwood C et al.

Nature Communications, 2026

A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.

Carli D et al.

Jama Network Open, 2025

Structural basis for the disruption of the cerebral cavernous malformations 2 (CCM2) interaction with Krev interaction trapped 1 (KRIT1) by disease-associated mutations.

Fisher OS et al.

The Journal of Biological Chemistry, 2015

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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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."