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.K272E

c.814A>G

Surrounding Variants

3 papers

NM_000154.2

p.G274D

c.821G>A

1 paper

NM_000154.2

p.L269P

c.806T>C

1 paper

NM_000154.2

p.L269L

c.805C>T

1 paper

NM_000154.2

p.F275Y

c.824T>A

1 paper

NM_000154.2

p.D268E

c.804C>G

1 paper

NM_000154.2

p.D268E

c.804C>A

1 paper

NM_000154.2

p.R267W

c.799A>T

2 papers

NM_000154.2

p.R267G

c.799A>G

3 papers

NM_000154.2

p.R277Q

c.830G>A

1 paper

NM_000154.2

p.A265Splc

c.794-3C>T

1 paper

NM_000154.2

p.H280H

c.840C>T

3 papers

NM_000154.2

p.V281M

c.841G>A