Varaico: Literature-Extracted Genetic Variants

Gene:PAXX
Variant:p.P3R
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PAXX

NM_183241.3:p.P3R

Associated Papers

Disease-linked regulatory DNA variants and homeostatic transcription factors in epidermis.

Porter DF et al.

Nature Communications, 2025

40998781 (PubMed )
Supplement: 41467_2025_63070_MOESM8_ESM.xlsx › fdr_motif_changing

Type 2 diabetes candidate genes, including PAX5, cause impaired insulin secretion in human pancreatic islets.

Bacos K et al.

The Journal of Clinical Investigation, 2023

36656641 (PubMed )
Supplement: jci-133-163612-s020.xlsx › B_-_DMRs

Clinicopathological and molecular genomic features of monomorphic epitheliotropic intestinal T-cell lymphoma in the Chinese population: a study of 20 cases.

Chen C et al.

Diagnostic Pathology, 2021

34895266 (PubMed )
Supplement: 13000_2021_1173_MOESM3_ESM.xlsx › ST3

Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.

Stanzick KJ et al.

Nature Communications, 2021

34272381 (PubMed )
Supplement: 41467_2021_24491_MOESM10_ESM.xlsx › SD8_signal_table

Case Report: Exome sequencing reveals recurrent RETSAT mutations and a loss-of-function POLDIP2 mutation in a rare undifferentiated tongue sarcoma.

Chan JYK et al.

F1000research, 2018

29862022 (PubMed )
Supplement: f1000research-7-15650-s0001.tgz › 59c5a55f-4cce-41c0-bc9f-6ab82f5c4fb7.xlsx › Supplementary_Table_2

Genes co-amplified with ERBB2 or MET as novel potential cancer-promoting genes in gastric cancer.

Kwon MJ et al.

Oncotarget, 2017

29190909 (PubMed )
Supplement: oncotarget-08-92209-s003.xlsx › sheet

Genome-wide profiling of structural genomic variations in Korean HapMap individuals.

Bae JS et al.

Plos One, 2010

20625389 (PubMed )
Supplement: pone.0011417.s006.xls › Sheet1
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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."