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

13 papers

NM_000520.6

p.R178C

c.532C>T

Surrounding Variants

7 papers

NM_000520.6

p.R178L

c.533G>T

2 papers

NM_000520.6

p.R178P

c.533G>C

56 papers

NM_000520.6

p.R178H

c.533G>A

NM_001318825.2

p.R189H

c.566G>A

2 papers

NM_000520.6

p.H179Y

c.535C>T

5 papers

NM_000520.6

p.H179R

c.536A>G

7 papers

NM_000520.6

p.Y180H

c.538T>C

4 papers

NM_000520.6

p.Y180*

c.540C>G

3 papers

NM_000520.6

p.Y180*

c.540C>A

3 papers

NM_000520.6

p.D175A

c.524A>C

1 paper

NM_000520.6

p.L174W

c.521T>G

2 papers

NM_000520.6

p.P182L

c.545C>T

2 papers

NM_000520.6

p.L173L

c.517C>T