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.K69T

c.206A>C

Surrounding Variants

1 paper

NM_000154.2

p.K69M

c.206A>T

1 paper

NM_000154.2

p.R68L

c.203G>T

1 paper

NM_000154.2

p.D70V

c.209A>T

7 papers

NM_000154.2

p.R68C

c.202C>T

1 paper

NM_000154.2

p.S74P

c.220T>C

3 papers

NM_000154.2

p.V64G

c.191T>G

1 paper

NM_000154.2

p.V64A

c.191T>C

1 paper

NM_000154.2

p.L75delFs

c.224_225delGA

1 paper

NM_000154.2

p.T61M

c.182C>T

1 paper

NM_000154.2

p.M60V

c.178A>G

1 paper

NM_000154.2

p.M60L

c.178A>C

2 papers

NM_000154.2

p.S79F

c.236C>T