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

1–12 of 235 variants

33 papers

NM_000154.2

p.A198V

c.593C>T

31 papers

NM_000154.2

p.P28T

c.82C>A

16 papers

NM_000154.2

p.V32M

c.94G>A

12 papers

NM_000154.2

p.R256W

c.766C>T

11 papers

NM_000154.2

p.G349S

c.1045G>A

10 papers

NM_000154.2

p.G346S

c.1036G>A

9 papers

NM_000154.2

p.H44Y

c.130C>T

8 papers

NM_000154.2

p.G36R

c.106G>C

8 papers

NM_000154.2

p.A384P

c.1150G>C

7 papers

NM_000154.2

p.R68C

c.202C>T

7 papers

NM_000154.2

p.L139P

c.416T>C

7 papers

NM_000154.2

p.T288M

c.863C>T