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.D314A

c.941A>C

Surrounding Variants

4 papers

NM_000520.6

p.D314V

c.941A>T

1 paper

NM_000520.6

p.D314N

c.940G>A

4 papers

NM_000520.6

p.Y316insFs

c.947dupA

2 papers

NM_000520.6

p.Y316*

c.948T>G

2 papers

NM_000520.6

p.Y316*

c.948T>A

1 paper

NM_000520.6

p.V311I

c.931G>A

5 papers

NM_000520.6

p.S310delFs

c.929_930delAG

1 paper

NM_000520.6

p.H318D

c.952C>G

2 papers

NM_000520.6

p.H318R

c.953A>G

1 paper

NM_000520.6

p.L317del1

c.949_950delAAG

1 paper

NM_000520.6

p.H318_L319insFs

c.954_955insG

1 paper

NM_000520.6

p.H318fs

c.952_953fs