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.L484Q

c.1451T>A

Surrounding Variants

6 papers

NM_000520.6

p.L484P

c.1451T>C

10 papers

NM_000520.6

p.W485R

c.1453T>C

8 papers

NM_000520.6

p.W485R

c.1453T>A

1 paper

NM_000520.6

p.R483T

c.1448G>C

2 papers

NM_000520.6

p.W485*

c.1454G>A

1 paper

NM_000520.6

p.W485C

c.1455G>T

1 paper

NM_000520.6

p.W485C

c.1455G>C

2 papers

NM_000520.6

p.W485*

c.1455G>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

4 papers

NM_000520.6

p.A479T

c.1435G>A