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.Y427*

c.1281T>A

Surrounding Variants

2 papers

NM_000520.6

p.Y427fs

c.1279_1280fs

1 paper

NM_000520.6

p.Y427*

c.1281T>G

1 paper

NM_000520.6

p.G428fs

c.1282_1283fs

17 papers

NM_000520.6

p.Y427fs

c.1279_1280fs

5 papers

NM_000520.6

p.S426_Y427insFs

c.1278_1279ins4

73 papers

NM_000520.6

p.I425_S426insFs

c.1274_1277dup4

1 paper

NM_000520.6

p.I425_S426insFs

c.1273_1277dup5

1 paper

NM_000520.6

p.S426fs

c.1276_1277fs

14 papers

NM_000520.6

p.S426insFs

c.1277_1278ins4

1 paper

NM_000520.6

p.I425_G428del4

c.1273_1283del12

1 paper

NM_000520.6

p.P429P

c.1287T>A

1 paper

NM_000520.6

p.I425M

c.1275A>G