Varaico: Literature-Extracted Genetic Variants

GLA

2,205 papers

RefSeq Summary

This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and i...

Pfam Domains

Melibiase_2aa 39–79UCSCAlpha galactosidase A

Melibiase_2aa 39–322UCSCAlpha galactosidase A

Melibiase_2_Caa 325–411UCSCAlpha galactosidase A C-terminal beta sandwich domain

Gene Aliases

HGNC Name

galactosidase alpha

HGNC Alias Symbol

GALA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

177 papers

NM_000169.3

p.R118C

c.352C>T

Surrounding Variants

3 papers

NM_000169.3

p.R118G

c.352C>G

3 papers

NM_000169.3

p.R118S

c.352C>A

1 paper

NM_000169.3

p.I117M

c.351T>G

3 papers

NM_000169.3

p.R118L

c.353G>T

3 papers

NM_000169.3

p.R118P

c.353G>C

7 papers

NM_000169.3

p.R118H

c.353G>A

8 papers

NM_000169.3

p.I117S

c.350T>G

11 papers

NM_000169.3

p.Q119*

c.355C>T

1 paper

NM_000169.3

p.Q119K

c.355C>A

1 paper

NM_000169.3

p.I117_Q119Fs

c.350_355delinsAFs

1 paper

NM_000169.3

p.F113_R118del0

c.337_354del18

1 paper

NM_000169.3

p.G116delFs

c.348delC