Varaico: Literature-Extracted Genetic Variants

Gene:GAPDH
Variant:p.V44I
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GAPDH

NM_002046.7:p.V44I

Associated Papers

Emergence of the novel PA-D27G mutation conferring reduced baloxavir susceptibility in influenza A viruses circulating in China, 2018-2025.

Sun B et al.

Emerging Microbes & Infections, 2026

Homologous recombination-deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants.

Prakash R et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36099300 (PubMed )
Supplement: pnas.2202727119.sapp.pdf

Vitamin D as an effective treatment in human uterine leiomyomas independent of mediator complex subunit 12 mutation.

Corachán A et al.

Fertility and Sterility, 2021

MED12 is recurrently mutated in Middle Eastern colorectal cancer.

Siraj AK et al.

Gut, 2018

Proteomic Profiling of Human Uterine Fibroids Reveals Upregulation of the Extracellular Matrix Protein Periostin.

Jamaluddin MFB et al.

Endocrinology, 2018

Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.

Yang H et al.

Journal of Human Genetics, 2016

Missense mutations in exon 2 of the MED12 gene are involved in IGF-2 overexpression in uterine leiomyoma.

Di Tommaso S et al.

Molecular Human Reproduction, 2014

Variants in exon 2 of MED12 gene causes uterine leiomyoma's through over-expression of MMP-9 of ECM pathway.

Pandey V et al.

Mutation Research, 0

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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."