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

44 papers

NM_000520.6

p.R247W

c.739C>T

Surrounding Variants

1 paper

NM_000520.6

p.R247G

c.739C>G

2 papers

NM_000520.6

p.A246S

c.736G>T

6 papers

NM_000520.6

p.A246T

c.736G>A

39 papers

NM_000520.6

p.R249W

c.745C>T

1 paper

NM_000520.6

p.G250R

c.748G>C

13 papers

NM_000520.6

p.G250S

c.748G>A

6 papers

NM_000520.6

p.G250V

c.749G>T

1 paper

NM_000520.6

p.G250A

c.749G>C

16 papers

NM_000520.6

p.G250D

c.749G>A

8 papers

NM_000520.6

p.R252C

c.754C>T

4 papers

NM_000520.6

p.R252L

c.755G>T

1 paper

NM_000520.6

p.R252P

c.755G>C