Varaico: Literature-Extracted Genetic Variants

GALC

489 papers

RefSeq Summary

This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene h...

Pfam Domains

Glyco_hydro_59aa 55–349UCSCGlycosyl hydrolase family 59

Glyco_hydro_59Maa 357–473UCSCGlycosyl hydrolase family 59 central domain

Glyco_hydro_59_Caa 509–684UCSCGalactocerebrosidase, C-terminal lectin domain

Gene Aliases

HGNC Name

galactosylceramidase

HGNC Previous Name

galactosylceramidase (Krabbe disease)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000153.4

p.K264E

c.790A>G

Surrounding Variants

1 paper

NM_000153.4

p.K264R

c.791A>G

3 papers

NM_000153.4

p.A263T

c.787G>A

1 paper

NM_000153.4

p.D262D

c.786T>C

1 paper

NM_000153.4

p.D262N

c.784G>A

1 paper

NM_000153.4

p.T266I

c.797C>T

2 papers

NM_000153.4

p.S259L

c.776C>T

1 paper

NM_000153.4

p.H258Y

c.772C>T

1 paper

NM_000153.4

p.H258D

c.772C>G

1 paper

NM_000153.4

p.T257I

c.770C>T

1 paper

NM_000153.4

p.W271*

c.812G>A

1 paper

NM_000153.4

p.G256A

c.767G>C

1 paper

NM_000153.4

p.W271*

c.813G>A