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

2 papers

NM_000520.6

p.E323D

c.969G>T

Surrounding Variants

2 papers

NM_000520.6

p.E323D

c.969G>C

2 papers

NM_000520.6

p.E323K

c.967G>A

4 papers

NM_000520.6

p.V324V

c.972T>A

3 papers

NM_000520.6

p.D322V

c.965A>T

1 paper

NM_000520.6

p.D322G

c.965A>G

1 paper

NM_000520.6

p.D322delFs

c.964delC

12 papers

NM_000520.6

p.D322Y

c.964G>T

6 papers

NM_000520.6

p.D322N

c.964G>A

1 paper

NM_000520.6

p.C328G

c.982T>G

1 paper

NM_000520.6

p.L319R

c.956T>G

1 paper

NM_000520.6

p.H318_L319insFs

c.954_955insG

1 paper

NM_000520.6

p.H318fs

c.952_953fs