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

16 papers

NM_000169.3

p.G361R

c.1081G>C

Surrounding Variants

6 papers

NM_000169.3

p.G361*

c.1081G>T

17 papers

NM_000169.3

p.G361R

c.1081G>A

1 paper

NM_000169.3

p.G361fs

c.1081_1082fs

3 papers

NM_000169.3

p.Q357_G360delFs

c.1069_1079del11

3 papers

NM_000169.3

p.G361A

c.1082G>C

3 papers

NM_000169.3

p.G361E

c.1082G>A

1 paper

NM_000169.3

p.R356_G361delins

c.1067_1082delinsT

2 papers

NM_000169.3

p.R356_G361Fs

c.1067_1082delinsTACTCTTATFs

1 paper

NM_000169.3

p.R356_G361Fs

c.1067_1082delinsTAFs

1 paper

NM_000169.3

p.G360A

c.1079G>C

11 papers

NM_000169.3

p.G360D

c.1079G>A

1 paper

NM_000169.3

p.G361delFs

c.1082delC