Varaico: Literature-Extracted Genetic Variants

Gene:KHDRBS1
Variant:p.I184N
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KHDRBS1

NM_006559.3:p.I184N

Associated Papers

Structure and function analysis of Sam68 and hnRNP A1 synergy in the exclusion of exon 7 from SMN2 transcripts.

Nadal M et al.

Protein Science : a Publication of the Protein Society, 2023

SAM68 interaction with U1A modulates U1 snRNP recruitment and regulates mTor pre-mRNA splicing.

Subramania S et al.

Nucleic Acids Research, 2019

SAM68 regulates neuronal activity-dependent alternative splicing of neurexin-1.

Iijima T et al.

Cell, 2011

The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy.

Pedrotti S et al.

The Embo Journal, 2010

KH domain integrity is required for wild-type localization of Sam68.

McBride AE et al.

Experimental Cell Research, 1998

Specificity and determinants of Sam68 RNA binding. Implications for the biological function of K homology domains.

Lin Q et al.

The Journal of Biological Chemistry, 1997

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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."