Varaico: Literature-Extracted Genetic Variants

Gene:HLA-A
Variant:p.G231S
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HLA-A

NM_002116.8:p.G231S

Associated Papers

Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.

Fagius J et al.

Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2023

37460866 (PubMed )
Supplement: 10286_2023_963_MOESM2_ESM.xlsx › Variants

High throughput single cell long-read sequencing analyses of same-cell genotypes and phenotypes in human tumors.

Shiau CK et al.

Nature Communications, 2023

37433798 (PubMed )
Supplement: 41467_2023_39813_MOESM3_ESM.zip › Supplementary_Data › Supplementary_Data8_Tumor_cell_expanded_mutations.xlsx › Supplemental_Data_8

A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).

Low JL et al.

Ebiomedicine, 2021

33529999 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Elevated neoantigen levels in tumors with somatic mutations in the HLA-A, HLA-B, HLA-C and B2M genes.

Castro A et al.

Bmc Medical Genomics, 2019

31345234 (PubMed )
Supplement: 12920_2019_544_MOESM9_ESM.xlsx › Table_S2

Deep analysis of acquired resistance to FGFR1 inhibitor identifies MET and AKT activation and an expansion of AKT1 mutant cells.

Gimenez-Xavier P et al.

Oncotarget, 2018

30140389 (PubMed )
Supplement: oncotarget-09-31549-s003.xlsx › Sheet1

Identification of NCAN as a candidate gene for developmental dyslexia.

Einarsdottir E et al.

Scientific Reports, 2017

28839234 (PubMed )
Supplement: 41598_2017_10175_MOESM4_ESM.xls › 3821-rare_exonic_variants

BRAF alteration status and the histone H3F3A gene K27M mutation segregate spinal cord astrocytoma histology.

Shankar GM et al.

Acta Neuropathologica, 2016

26487540 (PubMed )
Supplement: 401_2015_1492_MOESM2_ESM.xlsx › Shankar_STable2

Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Shankar GM et al.

Acta Neuropathologica Communications, 2014

25589003 (PubMed )
Supplement: 40478_2014_167_MOESM1_ESM.xlsx › Supplementary_Table_6

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain

An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay.

Rafiullah R et al.

Journal of Neurogenetics, 0

36508181 (PubMed )
Supplement: supplement_1.xlsx › Table_of_filtered_variants
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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."