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.Q96R

c.287A>G

Surrounding Variants

1 paper

NM_000154.2

p.T94insFs

c.280_281ins7

2 papers

NM_000154.2

p.L99P

c.296T>C

1 paper

NM_000154.2

p.L92Q

c.275T>A

1 paper

NM_000154.2

p.F90L

c.270T>G

1 paper

NM_000154.2

p.F90L

c.270T>A

1 paper

NM_000154.2

p.F90L

c.268T>C

1 paper

NM_000154.2

p.L88L

c.262C>T

1 paper

NM_000154.2

p.L88M

c.262C>A

3 papers

NM_000154.2

p.A107T

c.319G>A

1 paper

NM_000154.2

p.Y109H

c.325T>C

1 paper

NM_000154.2

p.Y109N

c.325T>A

1 paper

NM_000154.2

p.Y109F

c.326A>T