Varaico: Literature-Extracted Genetic Variants

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

1–12 of 31 variants

1 paper

NM_002044.4

p.R39*

c.115C>T

1 paper

NM_002044.4

p.S57F

c.170C>T

1 paper

NM_002044.4

p.I69L

c.205A>T

1 paper

NM_002044.4

p.A82T

c.244G>A

1 paper

NM_002044.4

p.N83S

c.248A>G

1 paper

NM_002044.4

p.C113R

c.337T>C

1 paper

NM_002044.4

p.H121Q

c.363C>G

1 paper

NM_002044.4

p.C132W

c.396C>G

1 paper

NM_002044.4

p.V134V

c.402A>T

1 paper

NM_002044.4

p.R164_L166delFs

c.491_497del7

1 paper

NM_002044.4

p.S178N

c.533G>A

1 paper

NM_002044.4

p.G186*

c.556G>T