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.W474Splc

c.1421+5G>C

Surrounding Variants

2 papers

NM_000520.6

p.W474Splc

c.1421+4A>G

45 papers

NM_000520.6

p.W474Splc

c.1421+1G>C

2 papers

NM_000520.6

p.W474*

c.1421G>A

1 paper

NM_000520.6

p.R472S

c.1416G>C

2 papers

NM_000520.6

p.P471L

c.1412C>T

1 paper

NM_000520.6

p.N466S

c.1397A>G

4 papers

NM_000520.6

p.D465N

c.1393G>A

1 paper

NM_000520.6

p.V464insFs

c.1390_1391insA

1 paper

NM_000520.6

p.E462D

c.1386A>T

1 paper

NM_000520.6

p.E462D

c.1386A>C

11 papers

NM_000520.6

p.E462V

c.1385A>T

1 paper

NM_000520.6

p.E462K

c.1384G>A