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.M459V

c.1375A>G

Surrounding Variants

1 paper

NM_000520.6

p.C458S

c.1373G>C

5 papers

NM_000520.6

p.C458Y

c.1373G>A

3 papers

NM_000520.6

p.G461V

c.1382G>T

2 papers

NM_000520.6

p.E456A

c.1367A>C

1 paper

NM_000520.6

p.E462K

c.1384G>A

11 papers

NM_000520.6

p.E462V

c.1385A>T

1 paper

NM_000520.6

p.E462D

c.1386A>T

1 paper

NM_000520.6

p.E462D

c.1386A>C

5 papers

NM_000520.6

p.G455R

c.1363G>C

5 papers

NM_000520.6

p.G455R

c.1363G>A

6 papers

NM_000520.6

p.G454D

c.1361G>A

NM_001318825.2

p.G465D

c.1394G>A

1 paper

NM_000520.6

p.V464insFs

c.1390_1391insA