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

19 papers

NM_000520.6

p.R499C

c.1495C>T

Surrounding Variants

1 paper

NM_000520.6

p.R499P

c.1496G>C

27 papers

NM_000520.6

p.R499H

c.1496G>A

NM_001318825.2

p.R510H

c.1529G>A

1 paper

NM_000520.6

p.L500fs

c.1498_1499fs

3 papers

NM_000520.6

p.L500delFs

c.1499delA

1 paper

NM_000520.6

p.Y497C

c.1490A>G

1 paper

NM_000520.6

p.S501*

c.1502C>G

1 paper

NM_000520.6

p.F495_A496ins0

c.1485_1487dupTGC

1 paper

NM_000520.6

p.A496G

c.1487C>G

19 papers

NM_000520.6

p.R504C

c.1510C>T

1 paper

NM_000520.6

p.R504fs

c.1510_1511fs

4 papers

NM_000520.6

p.R504L

c.1511G>T

1 paper

NM_000520.6

p.R504P

c.1511G>C