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

3 papers

NM_000520.6

p.L190L

c.570G>T

Surrounding Variants

1 paper

NM_000520.6

p.L190L

c.570G>C

3 papers

NM_000520.6

p.L190L

c.570G>A

1 paper

NM_000520.6

p.L190insFs

c.568_569ins8

2 papers

NM_001318825.2

p.L201L

c.601C>T

NM_000520.6

p.L190L

c.568C>T

1 paper

NM_000520.6

p.L190_D191Splc

c.570+3A>G

1 paper

NM_000520.6

p.S185_D188delFs

c.554_564del11

1 paper

NM_000520.6

p.D188G

c.563A>G

1 paper

NM_000520.6

p.D188N

c.562G>A

1 paper

NM_000520.6

p.L187P

c.560T>C

1 paper

NM_000520.6

p.I186_L187delFs

c.558_559delGG

1 paper

NM_000520.6

p.S184S

c.552T>G

2 papers

NM_000520.6

p.S184delFs

c.550delA