Varaico: Literature-Extracted Genetic Variants

Gene:HRAS
Variant:p.P34R
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HRAS

NM_005343.4:p.P34R

Associated Papers

In Silico Analysis of nsSNPs of Human KRAS Gene and Protein Modeling Using Bioinformatic Tools.

Xu D et al.

Acs Omega, 2023

The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway.

Tajan M et al.

Endocrine Reviews, 2018

Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.

Gremer L et al.

Human Molecular Genetics, 2010

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.

Rauen KA et al.

American Journal of Medical Genetics. Part A, 2010

Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders.

Kratz CP et al.

Cell Cycle (georgetown, Tex.), 2006

Germline KRAS mutations cause Noonan syndrome.

Schubbert S et al.

Nature Genetics, 2006

An effector-like function of Ras GTPase-activating protein predominates in cardiac muscle cells.

Abdellatif M 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."