Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A5
Variant:p.D463N
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SLC6A5

NM_004211.5:p.D463N

Associated Papers

High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Toulmonde M et al.

Ebiomedicine, 2020

33254023 (PubMed )
Supplement: mmc5.xlsx › UPS_somatic_mutations_filtered

The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia.

Kitzenmaier A et al.

The European Journal of Neuroscience, 2019

Cloning, functional characterisation and population analysis of a variant form of the human glycine type 2 transporter.

Evans J et al.

Febs Letters, 1999

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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."