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

5 papers

NM_000154.2

p.R239W

c.715C>T

Surrounding Variants

5 papers

NM_000154.2

p.R239Q

c.716G>A

2 papers

NM_000154.2

p.V238E

c.713T>A

1 paper

NM_000154.2

p.P237delFs

c.710delG

1 paper

NM_000154.2

p.Y236F

c.707A>T

3 papers

NM_000154.2

p.C243R

c.727T>C

1 paper

NM_000154.2

p.S234delFs

c.700delT

1 paper

NM_000154.2

p.S234fs

c.700_701fs

1 paper

NM_000154.2

p.E244G

c.731A>G

1 paper

NM_000154.2

p.E245G

c.734A>G

1 paper

NM_000154.2

p.E245D

c.735A>T

1 paper

NM_000154.2

p.E245D

c.735A>C

1 paper

NM_000154.2

p.R248W

c.742C>T