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

2 papers

NM_000154.2

p.G81G

c.243T>A

Surrounding Variants

1 paper

NM_000154.2

p.G81R

c.241G>C

1 paper

NM_000154.2

p.A82D

c.245C>A

1 paper

NM_000154.2

p.A82delFs

c.246delG

2 papers

NM_000154.2

p.E80*

c.238G>T

2 papers

NM_000154.2

p.S79F

c.236C>T

2 papers

NM_000154.2

p.S79Y

c.236C>A

1 paper

NM_000154.2

p.L75delFs

c.224_225delGA

1 paper

NM_000154.2

p.L88L

c.262C>T

1 paper

NM_000154.2

p.L88M

c.262C>A

1 paper

NM_000154.2

p.S74P

c.220T>C

1 paper

NM_000154.2

p.F90L

c.268T>C

1 paper

NM_000154.2

p.F90L

c.270T>G