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

16 papers

NM_000154.2

p.V32M

c.94G>A

Surrounding Variants

8 papers

NM_000154.2

p.G36R

c.106G>C

31 papers

NM_000154.2

p.P28T

c.82C>A

1 paper

NM_000154.2

p.R37S

c.109C>A

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.G25A

c.74G>C

1 paper

NM_000154.2

p.F24delFs

c.72delG

1 paper

NM_000154.2

p.N39S

c.116A>G

1 paper

NM_000154.2

p.F24Y

c.71T>A

1 paper

NM_000154.2

p.E23V

c.68A>T

1 paper

NM_000154.2

p.G42R

c.124G>A

1 paper

NM_000154.2

p.R21L

c.62G>T