Varaico: Literature-Extracted Genetic Variants

Gene:SLCO6A1
Variant:p.E23K
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SLCO6A1

NM_173488.5:p.E23K

Associated Papers

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.

Osborn DPS et al.

American Journal of Human Genetics, 2017

28190459 (PubMed )
Supplement: mmc8.pdf

Molecular determinants of ATP-sensitive potassium channel MgATPase activity: diabetes risk variants and diazoxide sensitivity.

Fatehi M et al.

Bioscience Reports, 2015

Association between Genetic Variants and Diabetes Mellitus in Iranian Populations: A Systematic Review of Observational Studies.

Khodaeian M et al.

Journal of Diabetes Research, 2015

Overlapping effector interfaces define the multiple functions of the HIV-1 Nef polyproline helix.

Kuo LS et al.

Retrovirology, 2012

The ATP-sensitive K(+) channel ABCC8 S1369A type 2 diabetes risk variant increases MgATPase activity.

Fatehi M et al.

Diabetes, 2012

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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."