Varaico: Literature-Extracted Genetic Variants

GALK1

213 papers

RefSeq Summary

Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul ...

Pfam Domains

GalKase_gal_bdgaa 18–67UCSCGalactokinase galactose-binding signature

GHMP_kinases_Naa 108–194UCSCGHMP kinases N terminal domain

GHMP_kinases_Caa 291–374UCSCGHMP kinases C terminal

Gene Aliases

HGNC Name

galactokinase 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000154.2

p.R312C

c.934C>T

Surrounding Variants

2 papers

NM_000154.2

p.R312H

c.935G>A

1 paper

NM_000154.2

p.L314L

c.942C>T

1 paper

NM_000154.2

p.M307del1

c.919_920delCAT

1 paper

NM_000154.2

p.R305R

c.915C>T

1 paper

NM_000154.2

p.G298V

c.893G>T

1 paper

NM_000154.2

p.I285_A292delFs

c.853_874del22

7 papers

NM_000154.2

p.T288M

c.863C>T

1 paper

NM_000154.2

p.I285T

c.854T>C

2 papers

NM_000154.2

p.E284insFs

c.850_851insG

1 paper

NM_000154.2

p.R315Splc

c.945-1G>T

3 papers

NM_000154.2

p.V281M

c.841G>A

1 paper

NM_000154.2

p.H280H

c.840C>T