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

22 papers

NM_000520.6

p.R504H

c.1511G>A

NM_001318825.2

p.R515H

c.1544G>A

Surrounding Variants

4 papers

NM_000520.6

p.R504L

c.1511G>T

1 paper

NM_000520.6

p.R504P

c.1511G>C

4 papers

NM_000520.6

p.R504delFs

c.1510delG

19 papers

NM_000520.6

p.R504C

c.1510C>T

1 paper

NM_000520.6

p.R504fs

c.1510_1511fs

1 paper

NM_000520.6

p.C505S

c.1514G>C

4 papers

NM_000520.6

p.C505Y

c.1514G>A

1 paper

NM_000520.6

p.E506D

c.1518A>T

4 papers

NM_000520.6

p.E506E

c.1518A>G

NM_001318825.2

p.E517E

c.1551A>G

1 paper

NM_000520.6

p.E506D

c.1518A>C

1 paper

NM_000520.6

p.S501*

c.1502C>G

1 paper

NM_000520.6

p.L500fs

c.1498_1499fs