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

4 papers

NM_000169.3

p.G361del1

c.1081_1082delTCC

Surrounding Variants

2 papers

NM_000169.3

p.P362fs

c.1084_1085fs

6 papers

NM_000169.3

p.P362T

c.1084C>A

1 paper

NM_000169.3

p.G360_G361del2

c.1078_1082del6

7 papers

NM_000169.3

p.P362L

c.1085C>T

1 paper

NM_000169.3

p.P362R

c.1085C>G

1 paper

NM_000169.3

p.G361delFs

c.1082delC

3 papers

NM_000169.3

p.G360del1

c.1078_1080delACC

3 papers

NM_000169.3

p.G361A

c.1082G>C

3 papers

NM_000169.3

p.G361E

c.1082G>A

1 paper

NM_000169.3

p.R356_G361delins

c.1067_1082delinsT

2 papers

NM_000169.3

p.R356_G361Fs

c.1067_1082delinsTACTCTTATFs

1 paper

NM_000169.3

p.R356_G361Fs

c.1067_1082delinsTAFs