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.W349insFs

c.1045_1046insA

Surrounding Variants

13 papers

NM_000169.3

p.W349R

c.1045T>C

13 papers

NM_000169.3

p.W349R

c.1045T>A

2 papers

NM_000169.3

p.W349S

c.1046G>C

23 papers

NM_000169.3

p.W349*

c.1046G>A

24 papers

NM_000169.3

p.W349*

c.1047G>A

4 papers

NM_000169.3

p.A348insFs

c.1042dupG

4 papers

NM_000169.3

p.A350fs

c.1048_1049fs

1 paper

NM_000169.3

p.A350S

c.1048G>T

1 paper

NM_000169.3

p.L347_A348insFs

c.1041_1042insA

12 papers

NM_000169.3

p.A348P

c.1042G>C

8 papers

NM_000169.3

p.A350P

c.1048G>C

1 paper

NM_000169.3

p.A348fs

c.1042_1043fs