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

6 papers

NM_000169.3

p.L206P

c.617T>C

Surrounding Variants

2 papers

NM_000169.3

p.Y207H

c.619T>C

5 papers

NM_000169.3

p.P205delFs

c.614delG

6 papers

NM_000169.3

p.P205L

c.614C>T

14 papers

NM_000169.3

p.P205R

c.614C>G

15 papers

NM_000169.3

p.Y207C

c.620A>G

14 papers

NM_000169.3

p.Y207S

c.620A>C

2 papers

NM_000169.3

p.L206_Y207delFs

c.618_619delAA

2 papers

NM_000169.3

p.Y207*

c.621T>G

2 papers

NM_000169.3

p.Y207*

c.621T>A

23 papers

NM_000169.3

p.P205S

c.613C>T

2 papers

NM_000169.3

p.P205A

c.613C>G

52 papers

NM_000169.3

p.P205T

c.613C>A