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.L122F

c.364C>T

Surrounding Variants

1 paper

NM_000154.2

p.L122_P123delFs

c.365_368del4

1 paper

NM_000154.2

p.G124D

c.371G>A

2 papers

NM_000154.2

p.A119Splc

c.356-2A>G

1 paper

NM_000154.2

p.V128M

c.382G>A

1 paper

NM_000154.2

p.V130insFs

c.388dupG

1 paper

NM_000154.2

p.V130G

c.389T>G

2 papers

NM_000154.2

p.S131I

c.392G>T

1 paper

NM_000154.2

p.A119Splc

c.356-32C>T

1 paper

NM_000154.2

p.G137fs

c.409_410fs

3 papers

NM_000154.2

p.G137C

c.409G>T

3 papers

NM_000154.2

p.G137R

c.409G>C

1 paper

NM_000154.2

p.G137insFs

c.410dupG