Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.R172Q
Back to variants list

JAK3

NM_000215.4:p.R172Q

Associated Papers

Structural Analysis of Janus Tyrosine Kinase Variants in Hematological Malignancies: Implications for Drug Development and Opportunities for Novel Therapeutic Strategies.

Rodriguez Moncivais OJ et al.

International Journal of Molecular Sciences, 2023

Additional mutations in IDH1/2-mutated patients with acute myeloid leukemia.

Lu J et al.

International Journal of Laboratory Hematology, 2021

p.Y317H is a new JAK2 gain-of-function mutation affecting the FERM domain in a myelofibrosis patient with CALR mutation.

Eder-Azanza L et al.

Haematologica, 2017

Whole-genome sequencing reveals oncogenic mutations in mycosis fungoides.

McGirt LY et al.

Blood, 2015

JAK/STAT signaling in hematological malignancies.

Vainchenker W et al.

Oncogene, 2013

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Janus kinase 3-activating mutations identified in natural killer/T-cell lymphoma.

Koo GC et al.

Cancer Discovery, 2012

FERM domain mutations induce gain of function in JAK3 in adult T-cell leukemia/lymphoma.

Elliott NE et al.

Blood, 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."