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

4 papers

NM_000520.6

p.G272R

c.814G>A

Surrounding Variants

4 papers

NM_000520.6

p.G272R

c.814G>C

1 paper

NM_000520.6

p.L273*

c.818T>G

1 paper

NM_000520.6

p.L273*

c.818T>A

1 paper

NM_000520.6

p.P271_G272delFs

c.813_816del4

1 paper

NM_000520.6

p.I270S

c.809T>G

1 paper

NM_000520.6

p.L274Q

c.821T>A

1 paper

NM_000520.6

p.G269A

c.806G>C

5 papers

NM_000520.6

p.G269D

c.806G>A

5 papers

NM_000520.6

p.G269R

c.805G>C

116 papers

NM_000520.6

p.G269S

c.805G>A

1 paper

NM_000520.6

p.T275P

c.823A>C

3 papers

NM_000520.6

p.G269Splc

c.806-7G>A