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

7 papers

NM_000154.2

p.T288M

c.863C>T

Surrounding Variants

1 paper

NM_000154.2

p.I285T

c.854T>C

1 paper

NM_000154.2

p.I285_A292delFs

c.853_874del22

2 papers

NM_000154.2

p.E284insFs

c.850_851insG

3 papers

NM_000154.2

p.V281M

c.841G>A

1 paper

NM_000154.2

p.H280H

c.840C>T

1 paper

NM_000154.2

p.G298V

c.893G>T

3 papers

NM_000154.2

p.R277Q

c.830G>A

1 paper

NM_000154.2

p.F275Y

c.824T>A

3 papers

NM_000154.2

p.G274D

c.821G>A

1 paper

NM_000154.2

p.K272E

c.814A>G

1 paper

NM_000154.2

p.R305R

c.915C>T

1 paper

NM_000154.2

p.L269P

c.806T>C