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

9 papers

NM_000169.3

p.Q386P

c.1157A>C

Surrounding Variants

13 papers

NM_000169.3

p.Q386*

c.1156C>T

1 paper

NM_000169.3

p.L387F

c.1159C>T

3 papers

NM_000169.3

p.L387P

c.1160T>C

1 paper

NM_000169.3

p.T385I

c.1154C>T

1 paper

NM_000169.3

p.L387L

c.1161C>T

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

1 paper

NM_000169.3

p.I384M

c.1152C>G

1 paper

NM_000169.3

p.L388insFs

c.1163_1164insA

1 paper

NM_000169.3

p.I384insFs

c.1150_1151insA

1 paper

NM_000169.3

p.I384T

c.1151T>C