Varaico: Literature-Extracted Genetic Variants

HEXB

335 papers

RefSeq Summary

Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other mol...

Pfam Domains

Glyco_hydro_20aa 1–292UCSCGlycosyl hydrolase family 20, catalytic domain

Glycohydro_20b2aa 56–178UCSCbeta-acetyl hexosaminidase like

Gene Aliases

HGNC Name

hexosaminidase subunit beta

HGNC Previous Name

hexosaminidase B (beta polypeptide)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000521.4

p.L415fs

c.1243_1244fs

Surrounding Variants

2 papers

NM_000521.4

p.K414_L415Splc

c.1243-2A>G

1 paper

NM_000521.4

p.A416V

c.1247C>T

47 papers

NM_000521.4

p.P417L

c.1250C>T

1 paper

NM_000521.4

p.P417P

c.1251G>A

1 paper

NM_000521.4

p.G418S

c.1252G>A

1 paper

NM_000521.4

p.G418R

c.1252G>C

1 paper

NM_000521.4

p.G418A

c.1253G>C

1 paper

NM_000521.4

p.T419delFs

c.1255delA

1 paper

NM_000521.4

p.I420V

c.1258A>G

1 paper

NM_000521.4

p.I420_V421delFs

c.1260_1263del4

3 papers

NM_000521.4

p.I420_E422del0

c.1260_1265del6

4 papers

NM_000521.4

p.K414_L415Splc

c.1243-17A>G