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

6 papers

NM_000520.6

p.R166G

c.496C>G

Surrounding Variants

1 paper

NM_000520.6

p.R166fs

c.496_497fs

1 paper

NM_000520.6

p.R166H

c.497G>A

2 papers

NM_000520.6

p.R166delFs

c.496delG

1 paper

NM_000520.6

p.R166R

c.498C>G

1 paper

NM_000520.6

p.R166delFs

c.498delG

2 papers

NM_000520.6

p.D163G

c.488A>G

1 paper

NM_000520.6

p.E162delFs

c.484delC

1 paper

NM_000520.6

p.E162fs

c.484_485fs

23 papers

NM_000520.6

p.R170W

c.508C>T

1 paper

NM_000520.6

p.R170P

c.509G>C

19 papers

NM_000520.6

p.R170Q

c.509G>A

1 paper

NM_000520.6

p.L172S

c.515T>C