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

3 papers

NM_000154.2

p.I184M

c.552C>G

Surrounding Variants

1 paper

NM_000154.2

p.I184I

c.552C>A

1 paper

NM_000154.2

p.M185L

c.553A>T

1 paper

NM_000154.2

p.M185L

c.553A>C

4 papers

NM_000154.2

p.D186N

c.556G>A

3 papers

NM_000154.2

p.D186A

c.557A>C

1 paper

NM_000154.2

p.D186E

c.558C>G

1 paper

NM_000154.2

p.D186E

c.558C>A

1 paper

NM_000154.2

p.M185_Q187Fs

c.554_559delinsTGTGFs

2 papers

NM_000154.2

p.I189F

c.565A>T

1 paper

NM_000154.2

p.M180V

c.538A>G

2 papers

NM_000154.2

p.G179E

c.536G>A

1 paper

NM_000154.2

p.A178V

c.533C>T