Varaico: Literature-Extracted Genetic Variants

Gene:RAC2
Variant:p.P34H
Back to variants list

RAC2

NM_002872.5:p.P34H

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Fyn

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Fyn

Inborn errors of immunity with kidney and urinary tract disorders: a review.

Shajari A et al.

International Urology and Nephrology, 2024

Phenotypic spectrum in a family with a novel RAC2 p.I21S dominant-activating mutation.

Ashby L et al.

Clinical & Translational Immunology, 2024

Novel Loss of Function (G15D) Mutation on RAC2 in a Family with Combined Immunodeficiency and Increased Levels of Immunoglobulin G, A, and E.

Duan X et al.

Journal of Clinical Immunology, 2023

A Novel RAC2 Mutation Causing Combined Immunodeficiency.

Zhang L et al.

Journal of Clinical Immunology, 2023

Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation.

Zhang L et al.

Journal of Clinical Immunology, 2022

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_3.xlsx › somatic_alterations

RHO GTPases: from new partners to complex immune syndromes.

El Masri R et al.

Nature Reviews. Immunology, 2021

Small Rho GTPases and their associated RhoGEFs mutations promote immunological defects in primary immunodeficiencies.

Hashim IF et al.

The International Journal of Biochemistry & Cell Biology, 2021

A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency.

Lagresle-Peyrou C et al.

Haematologica, 2021

RAC2 and primary human immune deficiencies.

Lougaris V et al.

Journal of Leukocyte Biology, 2020

A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency.

Lougaris V et al.

The Journal of Allergy and Clinical Immunology, 2019

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."