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

3 papers

NM_000153.4

p.T540T

c.1620A>G

Surrounding Variants

1 paper

NM_000153.4

p.W541R

c.1621T>C

1 paper

NM_000153.4

p.W541R

c.1621T>A

6 papers

NM_000153.4

p.W541*

c.1622G>A

1 paper

NM_000153.4

p.W541C

c.1623G>T

1 paper

NM_000153.4

p.W541C

c.1623G>C

4 papers

NM_000153.4

p.W541*

c.1623G>A

2 papers

NM_000153.4

p.I539T

c.1616T>C

1 paper

NM_000153.4

p.A542V

c.1625C>T

1 paper

NM_000153.4

p.A542D

c.1625C>A

1 paper

NM_000153.4

p.A542delFs

c.1624delC

1 paper

NM_000153.4

p.A542fs

c.1624_1625fs

1 paper

NM_000153.4

p.A542A

c.1626T>C