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.L356P

c.1067T>C

Surrounding Variants

1 paper

NM_000154.2

p.T352K

c.1055C>A

1 paper

NM_000154.2

p.G350D

c.1049G>A

1 paper

NM_000154.2

p.H363R

c.1088A>G

11 papers

NM_000154.2

p.G349S

c.1045G>A

2 papers

NM_000154.2

p.G347S

c.1039G>A

1 paper

NM_000154.2

p.R366Q

c.1097G>A

10 papers

NM_000154.2

p.G346S

c.1036G>A

1 paper

NM_000154.2

p.G345D

c.1034G>A

5 papers

NM_000154.2

p.T344M

c.1031C>T

1 paper

NM_000154.2

p.M365_I368del0

c.1095_1103del9

1 paper

NM_000154.2

p.M365_I368del4

c.1093_1103del12

1 paper

NM_000154.2

p.R342C

c.1024C>T