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

1–12 of 595 variants

116 papers

NM_000520.6

p.G269S

c.805G>A

73 papers

NM_000520.6

p.I425_S426insFs

c.1274_1277dup4

60 papers

NM_000520.6

p.G269S

c.805G>A

55 papers

NM_000520.6

p.R178H

c.533G>A

45 papers

NM_000520.6

p.W474Splc

c.1421+1G>C

44 papers

NM_000520.6

p.R247W

c.739C>T

39 papers

NM_000520.6

p.R249W

c.745C>T

31 papers

NM_000520.6

p.T358Splc

c.1073+1G>A

26 papers

NM_000520.6

p.R499H

c.1496G>A

23 papers

NM_000520.6

p.R170W

c.508C>T

22 papers

NM_000520.6

p.R504H

c.1511G>A

20 papers

NM_000520.6

p.E482K

c.1444G>A