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

1 paper

NM_000520.6

p.D258E

c.774C>A

Surrounding Variants

1 paper

NM_000520.6

p.D258E

c.774C>G

5 papers

NM_000520.6

p.T259A

c.775A>G

1 paper

NM_000520.6

p.T259P

c.775A>C

16 papers

NM_000520.6

p.D258H

c.772G>C

3 papers

NM_001318825.2

p.D269N

c.805G>A

NM_000520.6

p.D258N

c.772G>A

1 paper

NM_000520.6

p.F257S

c.770T>C

3 papers

NM_000520.6

p.P260S

c.778C>T

1 paper

NM_000520.6

p.R252_E256del0

c.756_767del12

1 paper

NM_000520.6

p.H262Y

c.784C>T

1 paper

NM_000520.6

p.H262R

c.785A>G

1 paper

NM_000520.6

p.L254P

c.761T>C

2 papers

NM_000520.6

p.T263I

c.788C>T