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.C202fs

c.604_605fs

Surrounding Variants

4 papers

NM_000169.3

p.C202R

c.604T>C

2 papers

NM_000169.3

p.C202S

c.604T>A

5 papers

NM_000169.3

p.C202F

c.605G>T

2 papers

NM_000169.3

p.C202S

c.605G>C

27 papers

NM_000169.3

p.C202Y

c.605G>A

1 paper

NM_000169.3

p.S201S

c.603C>G

10 papers

NM_000169.3

p.C202W

c.606T>G

4 papers

NM_000169.3

p.C202*

c.606T>A

9 papers

NM_000169.3

p.S201F

c.602C>T

5 papers

NM_000169.3

p.S201Y

c.602C>A

2 papers

NM_000169.3

p.S201A

c.601T>G

7 papers

NM_000169.3

p.E203*

c.607G>T