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.E282G

c.845A>G

Surrounding Variants

1 paper

NM_000520.6

p.E282E

c.846G>A

1 paper

NM_000520.6

p.S284insFs

c.851_852dupCT

1 paper

NM_000520.6

p.S279C

c.836C>G

7 papers

NM_000520.6

p.S279P

c.835T>C

1 paper

NM_000520.6

p.Y278_S279delins

c.834_835delinsACTCC

1 paper

NM_000520.6

p.Y278*

c.834C>G

1 paper

NM_000520.6

p.Y278*

c.834C>A

1 paper

NM_000520.6

p.T286T

c.858C>T

1 paper

NM_000520.6

p.G288*

c.862G>T

1 paper

NM_000520.6

p.T275P

c.823A>C

1 paper

NM_000520.6

p.L274Q

c.821T>A

1 paper

NM_000520.6

p.L273*

c.818T>G