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.P439S

c.1315C>T

Surrounding Variants

3 papers

NM_000520.6

p.L440P

c.1319T>C

2 papers

NM_000520.6

p.I436_V437insFs

c.1307_1310dup4

1 paper

NM_000520.6

p.A441T

c.1321G>A

2 papers

NM_000520.6

p.I436delFs

c.1307_1308delTA

1 paper

NM_000520.6

p.A441E

c.1322C>A

7 papers

NM_000520.6

p.I436V

c.1306A>G

1 paper

NM_000520.6

p.I436fs

c.1306_1307fs

1 paper

NM_000520.6

p.Y435_I436delins

c.1305_1306delinsTG

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

2 papers

NM_000520.6

p.F434L

c.1302C>G