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.G251R

c.751G>C

Surrounding Variants

1 paper

NM_000154.2

p.L250L

c.748C>T

1 paper

NM_000154.2

p.A249A

c.747G>A

1 paper

NM_000154.2

p.A249V

c.746C>T

2 papers

NM_000154.2

p.E253A

c.758A>C

1 paper

NM_000154.2

p.R248W

c.742C>T

1 paper

NM_000154.2

p.S254delFs

c.761delC

12 papers

NM_000154.2

p.R256W

c.766C>T

1 paper

NM_000154.2

p.R256G

c.766C>G

1 paper

NM_000154.2

p.R256Q

c.767G>A

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.E245G

c.734A>G