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

1 paper

NM_000520.6

p.N291S

c.872A>G

Surrounding Variants

1 paper

NM_000520.6

p.G288*

c.862G>T

4 papers

NM_000520.6

p.N295S

c.884A>G

1 paper

NM_000520.6

p.T286T

c.858C>T

1 paper

NM_001318825.2

p.N307S

c.920A>G

1 paper

NM_001318825.2

p.N307T

c.920A>C

1 paper

NM_000520.6

p.S284insFs

c.851_852dupCT

1 paper

NM_000520.6

p.F300L

c.898T>C

1 paper

NM_000520.6

p.E282E

c.846G>A

1 paper

NM_000520.6

p.E282G

c.845A>G

1 paper

NM_000520.6

p.F300L

c.900C>G

1 paper

NM_000520.6

p.F300L

c.900C>A

6 papers

NM_000520.6

p.M301R

c.902T>G