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.E274_D275delFs

c.822_823delCT

Surrounding Variants

1 paper

NM_000153.4

p.D275H

c.823G>C

1 paper

NM_000153.4

p.E274Q

c.820G>C

1 paper

NM_000153.4

p.S277N

c.830G>A

3 papers

NM_000153.4

p.S273F

c.818C>T

1 paper

NM_000153.4

p.T278P

c.832A>C

3 papers

NM_000153.4

p.T278I

c.833C>T

1 paper

NM_000153.4

p.L279*

c.836T>G

1 paper

NM_000153.4

p.L279*

c.836T>A

1 paper

NM_000153.4

p.W271*

c.813G>A

1 paper

NM_000153.4

p.N280fs

c.838_839fs

1 paper

NM_000153.4

p.W271*

c.812G>A

7 papers

NM_000153.4

p.G284S

c.850G>A