Varaico: Literature-Extracted Genetic Variants

Gene:MAPK1
Variant:p.E12K
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MAPK1

NM_002745.5:p.E12K

Associated Papers

Dysregulated ECM remodeling proteins lead to aberrant osteogenesis of Costello syndrome iPSCs.

Choi JB et al.

Stem Cell Reports, 2021

34242618 (PubMed )
Supplement: mmc2.pdf

Expanding mutational spectrum of HRAS by a patient with Schimmelpenning-Feuerstein-Mims syndrome.

Luo Q et al.

The Journal of Dermatology, 2021

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.

Niihori T et al.

Journal of Human Genetics, 2011

Mutations in K-ras and epidermal growth factor receptor expression in Korean patients with stages III and IV colorectal cancer.

Lee WS et al.

International Journal of Surgical Pathology, 2011

No duplicate KRAS mutation is identified on the same allele in gastric or colorectal cancer cells with multiple KRAS mutations.

Kimura K et al.

The Journal of International Medical 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."