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

1–12 of 2073 variants

435 papers

NM_000169.3

p.N215S

c.644A>G

320 papers

NM_000169.3

p.D313Y

c.937G>T

295 papers

NM_000169.3

p.K213_P214Splc

c.639+919G>A

273 papers

NM_000169.3

p.R301Q

c.902G>A

266 papers

NM_000169.3

p.A143T

c.427G>A

209 papers

NM_000169.3

p.E48V

c.143A>T

192 papers

NM_000169.3

p.R112H

c.335G>A

177 papers

NM_000169.3

p.R118C

c.352C>T

158 papers

NM_000169.3

p.R112C

c.334C>T

152 papers

NM_000169.3

p.R227*

c.679C>T

151 papers

NM_000169.3

p.E66Q

c.196G>C

140 papers

NM_000169.3

p.R220*

c.658C>T