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.K432_D433insFs

c.1296_1297insG

Surrounding Variants

2 papers

NM_000520.6

p.F434L

c.1300T>C

2 papers

NM_000520.6

p.F434L

c.1302C>G

2 papers

NM_000520.6

p.F434L

c.1302C>A

1 paper

NM_000520.6

p.W431C

c.1293G>T

1 paper

NM_000520.6

p.W431C

c.1293G>C

1 paper

NM_000520.6

p.W431*

c.1293G>A

1 paper

NM_000520.6

p.W431*

c.1292G>A

7 papers

NM_000520.6

p.Y435Y

c.1305C>T

1 paper

NM_000520.6

p.Y435*

c.1305C>G

1 paper

NM_000520.6

p.Y435*

c.1305C>A

7 papers

NM_000520.6

p.I436V

c.1306A>G

1 paper

NM_000520.6

p.I436fs

c.1306_1307fs