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

7 papers

NM_000154.2

p.Q382*

c.1144C>T

Surrounding Variants

1 paper

NM_000154.2

p.Y379_L380insFs

c.1137_1138insC

8 papers

NM_000154.2

p.A384P

c.1150G>C

1 paper

NM_000154.2

p.Y379F

c.1136A>T

2 papers

NM_000154.2

p.Y379C

c.1136A>G

2 papers

NM_000154.2

p.Y379S

c.1136A>C

1 paper

NM_000154.2

p.Y379H

c.1135T>C

1 paper

NM_000154.2

p.A387T

c.1159G>A

1 paper

NM_000154.2

p.T375T

c.1125T>C

1 paper

NM_000154.2

p.C391S

c.1171T>A

1 paper

NM_000154.2

p.G373S

c.1117G>A

1 paper

NM_000154.2

p.C391S

c.1172G>C

1 paper

NM_000154.2

p.Q369_E370Splc

c.1108-24T>G