Varaico: Literature-Extracted Genetic Variants

HEXA

462 papers

RefSeq Summary

This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosamini...

Pfam Domains

Glycohydro_20b2aa 23–145UCSCbeta-acetyl hexosaminidase like

Glyco_hydro_20aa 167–488UCSCGlycosyl hydrolase family 20, catalytic domain

Gene Aliases

HGNC Name

hexosaminidase subunit alpha

HGNC Previous Name

hexosaminidase A (alpha polypeptide)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000520.6

p.L183H

c.548T>A

Surrounding Variants

4 papers

NM_000520.6

p.L183insFs

c.547_548insA

1 paper

NM_000520.6

p.L183fs

c.547_548fs

2 papers

NM_000520.6

p.P182L

c.545C>T

2 papers

NM_000520.6

p.S184delFs

c.550delA

1 paper

NM_000520.6

p.S184S

c.552T>G

4 papers

NM_000520.6

p.Y180*

c.540C>G

3 papers

NM_000520.6

p.Y180*

c.540C>A

7 papers

NM_000520.6

p.Y180H

c.538T>C

1 paper

NM_000520.6

p.L187P

c.560T>C

1 paper

NM_000520.6

p.I186_L187delFs

c.558_559delGG

5 papers

NM_000520.6

p.H179R

c.536A>G

2 papers

NM_000520.6

p.H179Y

c.535C>T