Varaico: Literature-Extracted Genetic Variants

Gene:KHDRBS1
Variant:p.V229F
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KHDRBS1

NM_006559.3:p.V229F

Associated Papers

Dysregulation of alternative splicing underlies synaptic defects in familial amyotrophic lateral sclerosis.

Verdile V et al.

Progress in Neurobiology, 2023

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

Subramania S et al.

Nucleic Acids Research, 2019

The RNA-binding protein Sam68 regulates expression and transcription function of the androgen receptor splice variant AR-V7.

Stockley J et al.

Scientific Reports, 2015

The transcription factor FBI-1 inhibits SAM68-mediated BCL-X alternative splicing and apoptosis.

Bielli P et al.

Embo Reports, 2014

The tissue-specific RNA binding protein T-STAR controls regional splicing patterns of neurexin pre-mRNAs in the brain.

Ehrmann I et al.

Plos Genetics, 2013

Spinal muscular atrophy: a new player joins the battle for SMN2 exon 7 splicing.

Pedrotti S et al.

Cell Cycle (georgetown, Tex.), 2010

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

Alternative splicing of the cyclin D1 proto-oncogene is regulated by the RNA-binding protein Sam68.

Paronetto MP et al.

Cancer Research, 2010

The germ cell nuclear proteins hnRNP G-T and RBMY activate a testis-specific exon.

Liu Y et al.

Plos Genetics, 2009

The RNA-binding and adaptor protein Sam68 modulates signal-dependent splicing and transcriptional activity of the androgen receptor.

Rajan P et al.

The Journal of Pathology, 2008

The RNA-binding protein Sam68 modulates the alternative splicing of Bcl-x.

Paronetto MP et al.

The Journal of Cell Biology, 2007

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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."