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

4 papers

NM_000520.6

p.A479T

c.1435G>A

Surrounding Variants

5 papers

NM_000520.6

p.G478R

c.1432G>C

5 papers

NM_000520.6

p.G478R

c.1432G>A

1 paper

NM_000520.6

p.E482*

c.1444G>T

1 paper

NM_000520.6

p.E482Q

c.1444G>C

20 papers

NM_000520.6

p.E482K

c.1444G>A

1 paper

NM_000520.6

p.R476*

c.1426A>T

1 paper

NM_000520.6

p.P475R

c.1424C>G

15 papers

NM_000520.6

p.W474C

c.1422G>T

16 papers

NM_000520.6

p.W474C

c.1422G>C

1 paper

NM_000520.6

p.R483T

c.1448G>C

3 papers

NM_000520.6

p.W474*

c.1422G>A

3 papers

NM_000520.6

p.W474*

c.1421G>A