Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.A310A
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ACTG1

NM_001614.5:p.A310A

Associated Papers

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201

Frequent alterations in cytoskeleton remodelling genes in primary and metastatic lung adenocarcinomas.

Wu K et al.

Nature Communications, 2015

26647728 (PubMed )
Supplement: ncomms10131-s8.xlsx › Sup_Data_7

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.

Morín M et al.

Human Molecular Genetics, 2009

A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.

Rendtorff ND et al.

European Journal of Human Genetics : Ejhg, 2006

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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."