Varaico: Literature-Extracted Genetic Variants

Gene:GALK2
Variant:p.R39*

GALK2

26 papers

RefSeq Summary

This gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. The encoded protein is a member of the GH...

Pfam Domains

GalKase_gal_bdgaa 1–49UCSCGalactokinase galactose-binding signature
GHMP_kinases_Naa 85–174UCSCGHMP kinases N terminal domain
GHMP_kinases_Caa 324–406UCSCGHMP kinases C terminal

Gene Aliases

HGNC Name

galactokinase 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002044.4
p.R39*
c.115C>T
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