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

11 papers

NM_000169.3

p.I384N

c.1151T>A

Surrounding Variants

1 paper

NM_000169.3

p.I384insFs

c.1150_1151insA

1 paper

NM_000169.3

p.I384T

c.1151T>C

1 paper

NM_000169.3

p.I384M

c.1152C>G

4 papers

NM_000169.3

p.F383del1

c.1147_1148delGAA

1 paper

NM_000169.3

p.C382_F383delFs

c.1145_1149del5

1 paper

NM_000169.3

p.P380_F383delFs

c.1139_1149del11

1 paper

NM_000169.3

p.F383L

c.1149C>G

1 paper

NM_000169.3

p.F383_I384insFs

c.1149_1150insA

1 paper

NM_000169.3

p.F383L

c.1149C>A

19 papers

NM_000169.3

p.T385A

c.1153A>G

6 papers

NM_000169.3

p.T385P

c.1153A>C

1 paper

NM_000169.3

p.I384delFs

c.1152delG