Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.P64L
Back to variants list

RET

NM_020975.6:p.P64L

Associated Papers

Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.

Panda G et al.

Frontiers in Pharmacology, 2022

35865963 (PubMed )
Supplement: Table12.xlsx › Sheet1

Roles of the RET Proto-oncogene in Cancer and Development.

Takahashi M et al.

Jma Journal, 2020

Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.

Crockett DK et al.

Genome Medicine, 2012

22640420 (PubMed )
Supplement: gm347-S2.DOC

Modification of multiple endocrine neoplasia 2A phenotype by cell membrane proximity of RET mutations in exon 10.

Machens A et al.

Endocrine-related Cancer, 2009

[Molecular biology, basic research and diagnosis of Hirschsprung's disease].

Martucciello G et al.

Der Pathologe, 2007

RET receptor signaling: dysfunction in thyroid cancer and Hirschsprung's disease.

Asai N et al.

Pathology International, 2006

Molecular modeling of the extracellular domain of the RET receptor tyrosine kinase reveals multiple cadherin-like domains and a calcium-binding site.

Anders J et al.

The Journal of Biological Chemistry, 2001

Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype.

Ito S et al.

Cancer Research, 1997

Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain.

Iwashita T et al.

Human Molecular Genetics, 1996

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.

Attié T et al.

Human Molecular Genetics, 1995

Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

Edery P et al.

Journal of Medical Genetics, 1994

[Mutations of RET proto-oncogene in Hirschsprung disease].

Lyonnet S et al.

Comptes Rendus De L'academie Des Sciences. Serie Iii, Sciences De La Vie, 1994

[Identification of mutation of RET proto-oncogene in Hirschsprung disease].

Attié T et al.

Comptes Rendus Des Seances De La Societe De Biologie Et De Ses Filiales, 1994

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."