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

8 papers

NM_000169.3

p.C378R

c.1132T>C

Surrounding Variants

1 paper

NM_000169.3

p.C378Fs

c.1132delinsCCACCGCGCCCGGCCFs

1 paper

NM_000169.3

p.C378S

c.1132T>A

1 paper

NM_000169.3

p.A370_A377del8

c.1108_1130del24

5 papers

NM_000169.3

p.C378F

c.1133G>T

1 paper

NM_000169.3

p.C378S

c.1133G>C

19 papers

NM_000169.3

p.C378Y

c.1133G>A

2 papers

NM_000169.3

p.C378*

c.1134T>A

1 paper

NM_000169.3

p.A377ins4

c.1130_1131ins12

8 papers

NM_000169.3

p.A377D

c.1130C>A

1 paper

NM_000169.3

p.A377S

c.1129G>T

1 paper

NM_000169.3

p.C378delFs

c.1134delA

1 paper

NM_000169.3

p.N379delFs

c.1136delT