Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.L192F
Back to variants list

ATRX

NM_000489.6:p.L192F

Associated Papers

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

Alternative lengthening of telomeres phenotype and loss of ATRX expression in sarcomas.

Ren X et al.

Oncology Letters, 2018

Mutations in the chromatin-associated protein ATRX.

Gibbons RJ et al.

Human Mutation, 2008

Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies.

Steensma DP et al.

Blood, 2005

Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations.

Steensma DP et al.

Blood, 2004

Molecular-clinical spectrum of the ATR-X syndrome.

Gibbons RJ et al.

American Journal of Medical Genetics, 2000

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."