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

3 papers

NM_000520.6

p.L451V

c.1351C>G

Surrounding Variants

2 papers

NM_000520.6

p.L451P

c.1352T>C

1 paper

NM_000520.6

p.A450delFs

c.1349delG

1 paper

NM_000520.6

p.A450fs

c.1348_1349fs

2 papers

NM_000520.6

p.G454R

c.1360G>C

6 papers

NM_000520.6

p.G454S

c.1360G>A

6 papers

NM_000520.6

p.G454D

c.1361G>A

NM_001318825.2

p.G465D

c.1394G>A

5 papers

NM_000520.6

p.G455R

c.1363G>C

5 papers

NM_000520.6

p.G455R

c.1363G>A

3 papers

NM_000520.6

p.P446P

c.1338T>C

3 papers

NM_000520.6

p.T445delFs

c.1334delG

1 paper

NM_000520.6

p.P446L

c.1337C>T

2 papers

NM_000520.6

p.E456A

c.1367A>C