Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.V50G
Back to variants list

MCPH1

NM_024596.5:p.V50G

Associated Papers

Functional analysis of a novel intronic variant of MCPH1 with autosomal recessive primary microcephaly.

Luo S et al.

Heliyon, 2024

BRIT1 dysfunction confers synergistic inhibition of hepatocellular carcinoma by targeting poly (ADP-ribose) polymerases and PI3K.

Liang Y et al.

American Journal of Cancer Research, 2020

The DNA damage response molecule MCPH1 in brain development and beyond.

Liu X et al.

Acta Biochimica Et Biophysica Sinica, 2016

Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin.

Ghani-Kakhki M et al.

Molecular Syndromology, 2012

SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation.

Leung JW et al.

The Journal of Biological Chemistry, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."