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.E43G

c.128A>G

Surrounding Variants

1 paper

NM_000154.2

p.E43A

c.128A>C

9 papers

NM_000154.2

p.H44Y

c.130C>T

1 paper

NM_000154.2

p.G42R

c.124G>A

2 papers

NM_000154.2

p.D46N

c.136G>A

1 paper

NM_000154.2

p.D46A

c.137A>C

1 paper

NM_000154.2

p.N39S

c.116A>G

1 paper

NM_000154.2

p.R37P

c.110G>C

1 paper

NM_000154.2

p.R37H

c.110G>A

1 paper

NM_000154.2

p.R37S

c.109C>A

2 papers

NM_000154.2

p.G50R

c.148G>C

1 paper

NM_000154.2

p.G50V

c.149G>T

1 paper

NM_000154.2

p.G50D

c.149G>A