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

7 papers

NM_000169.3

p.P343L

c.1028C>T

Surrounding Variants

1 paper

NM_000169.3

p.P343S

c.1027C>T

2 papers

NM_000169.3

p.V339_R342delFs

c.1016_1026del11

1 paper

NM_000169.3

p.L344insFs

c.1030_1031insT

2 papers

NM_000169.3

p.R342delFs

c.1025delC

13 papers

NM_000169.3

p.L344P

c.1031T>C

14 papers

NM_000169.3

p.R342L

c.1025G>T

5 papers

NM_000169.3

p.R342P

c.1025G>C

91 papers

NM_000169.3

p.R342Q

c.1025G>A

63 papers

NM_000169.3

p.R342*

c.1024C>T

3 papers

NM_000169.3

p.L344fs

c.1030_1031fs

1 paper

NM_000169.3

p.S345A

c.1033T>G

24 papers

NM_000169.3

p.S345P

c.1033T>C