Varaico: Literature-Extracted Genetic Variants

Gene:ACACA
Variant:p.A29S
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ACACA

NM_198834.3:p.A29S

Associated Papers

Systematically developing a registry of splice-site creating variants utilizing massive publicly available transcriptome sequence data.

Iida N et al.

Nature Communications, 2025

39788962 (PubMed )
Supplement: 41467_2024_55185_MOESM3_ESM.xlsx › Supplementary_Data_2

Global impact of somatic structural variation on the cancer proteome.

Chen F et al.

Nature Communications, 2023

37704602 (PubMed )
Supplement: 41467_2023_41374_MOESM12_ESM.xlsx › TCGA_pancan_surv

Oncogenic role of a developmentally regulated NTRK2 splice variant.

Pattwell SS et al.

Science Advances, 2022

36206341 (PubMed )
Supplement: sciadv.abo6789_datasets_s1_to_s4.zip › sciadv.abo6789_dataset_s2.xlsx › TCGA_Transcript_data

Driver Fusions and Their Implications in the Development and Treatment of Human Cancers.

Gao Q et al.

Cell Reports, 2018

29617662 (PubMed )
Supplement: NIHMS958978-supplement-2.xlsx › TCGA_samples_used_in_this_study

Non-coding cancer driver candidates identified with a sample- and position-specific model of the somatic mutation rate.

Juul M et al.

Elife, 2017

28362259 (PubMed )
Supplement: elife-21778-supp7.xlsx › TCGAexome_expression_samples

Naturally occurring CCR5 extracellular and transmembrane domain variants affect HIV-1 Co-receptor and ligand binding function.

Howard OM et al.

The Journal of Biological Chemistry, 1999

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