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

2 papers

NM_000169.3

p.G274V

c.821G>T

Surrounding Variants

5 papers

NM_000169.3

p.G274D

c.821G>A

5 papers

NM_000169.3

p.G274R

c.820G>C

6 papers

NM_000169.3

p.G274S

c.820G>A

7 papers

NM_000169.3

p.F273L

c.819T>G

7 papers

NM_000169.3

p.F273L

c.819T>A

11 papers

NM_000169.3

p.L275F

c.823C>T

1 paper

NM_000169.3

p.L275fs

c.823_824fs

10 papers

NM_000169.3

p.F273S

c.818T>C

5 papers

NM_000169.3

p.L275H

c.824T>A

2 papers

NM_000169.3

p.L275delFs

c.823delG

7 papers

NM_000169.3

p.F273L

c.817T>C

1 paper

NM_000169.3

p.N272delFs

c.816delG