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

1 paper

NM_000169.3

p.R105*

c.313A>T

Surrounding Variants

2 papers

NM_000169.3

p.R105G

c.313A>G

7 papers

NM_000169.3

p.G104V

c.311G>T

1 paper

NM_000169.3

p.G104A

c.311G>C

2 papers

NM_000169.3

p.G104D

c.311G>A

5 papers

NM_000169.3

p.L106F

c.316C>T

10 papers

NM_000169.3

p.L106R

c.317T>G

1 paper

NM_000169.3

p.L106P

c.317T>C

1 paper

NM_000169.3

p.L106H

c.317T>A

1 paper

NM_000169.3

p.E103E

c.309A>G

2 papers

NM_000169.3

p.L106fs

c.316_317fs

1 paper

NM_000169.3

p.E103*

c.307G>T

3 papers

NM_000169.3

p.E103Q

c.307G>C