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.C170*

c.510T>A

Surrounding Variants

1 paper

NM_000154.2

p.Q171*

c.511C>T

1 paper

NM_000154.2

p.Q172K

c.514C>A

2 papers

NM_000154.2

p.A167delFs

c.500delG

1 paper

NM_000154.2

p.Q168*

c.502C>T

1 paper

NM_000154.2

p.A167A

c.501C>A

1 paper

NM_000154.2

p.E174Q

c.520G>C

1 paper

NM_000154.2

p.E174K

c.520G>A

1 paper

NM_000154.2

p.A167P

c.499G>C

1 paper

NM_000154.2

p.E174D

c.522G>T

1 paper

NM_000154.2

p.E174D

c.522G>C

2 papers

NM_000154.2

p.A165V

c.494C>T

2 papers

NM_000154.2

p.S176_F177insFs

c.528_529insG