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.A16P

c.46G>C

Surrounding Variants

1 paper

NM_000154.2

p.R18Q

c.53G>A

1 paper

NM_000154.2

p.L13L

c.37C>T

1 paper

NM_000154.2

p.L12delFs

c.35delA

1 paper

NM_000154.2

p.A19V

c.56C>T

1 paper

NM_000154.2

p.A19D

c.56C>A

1 paper

NM_000154.2

p.F20L

c.58T>C

1 paper

NM_000154.2

p.L12L

c.34C>T

1 paper

NM_000154.2

p.F20L

c.60C>G

1 paper

NM_000154.2

p.F20L

c.60C>A

2 papers

NM_000154.2

p.R21W

c.61C>T

1 paper

NM_000154.2

p.R21L

c.62G>T

1 paper

NM_000154.2

p.V9I

c.25G>A