Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.K4K
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SOD1

NM_000454.5:p.K4K

Associated Papers

Clinical and genetic determinants of survival in amyotrophic lateral sclerosis patients from North India.

Khurana S et al.

Brain Communications, 2026

41574092 (PubMed )
Supplement: fcag003_supplementary_data.zip › Supplementary_Tables_S1-S6.xlsx › Supplemental_Table_S4

Comprehensive in silico analysis and molecular dynamics of the superoxide dismutase 1 (SOD1) variants related to amyotrophic lateral sclerosis.

Pereira GRC et al.

Plos One, 2021

33630959 (PubMed )
Supplement: pone.0247841.s001.docx

The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis.

Synofzik M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2010

Protein aggregation and protein instability govern familial amyotrophic lateral sclerosis patient survival.

Wang Q et al.

Plos Biology, 2008

Understanding mutations and protein stability through tripeptides.

Anishetty S et al.

Febs Letters, 2006

A screening for superoxide dismutase-1 D90A mutation in Italian patients with sporadic amyotrophic lateral sclerosis.

Mancuso M et al.

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases, 2002

Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations.

Gellera C et al.

Neuromuscular Disorders : Nmd, 2001

Recessively inherited amyotrophic lateral sclerosis: a Germany family with the D90A CuZn-SOD mutation.

Winter SM et al.

Journal of Neurology, 2000

Genetic factors in the early diagnosis of ALS.

Andersen PM

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases, 2000

Current status of SOD1 mutations in familial amyotrophic lateral sclerosis.

Gaudette M et al.

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases, 2000

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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."