Varaico: Literature-Extracted Genetic Variants

Gene:GNA13
Variant:p.Q226L
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GNA13

NM_006572.6:p.Q226L

Associated Papers

A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndrome.

El Masri R et al.

Nature Communications, 2025

Naturally occurring hotspot cancer mutations in Gα13 promote oncogenic signaling.

Maziarz M et al.

The Journal of Biological Chemistry, 2020

Inactivating mutations in GNA13 and RHOA in Burkitt's lymphoma and diffuse large B-cell lymphoma: a tumor suppressor function for the Gα13/RhoA axis in B cells.

O'Hayre M et al.

Oncogene, 2016

The G protein G alpha(13) is required for growth factor-induced cell migration.

Shan D et al.

Developmental Cell, 2006

Critical role of lysine 204 in switch I region of Galpha13 for regulation of p115RhoGEF and leukemia-associated RhoGEF.

Nakamura S et al.

Molecular Pharmacology, 2004

RhoA exerts a permissive effect on volume-regulated anion channels in vascular endothelial cells.

Carton I et al.

American Journal of Physiology. Cell Physiology, 2002

Mechanisms of regulation of phospholipase D1 and D2 by the heterotrimeric G proteins G13 and Gq.

Xie Z et al.

The Journal of Biological Chemistry, 2002

G13alpha-mediated PYK2 activation. PYK2 is a mediator of G13alpha -induced serum response element-dependent transcription.

Shi CS et al.

The Journal of Biological Chemistry, 2000

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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."