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.L23L

c.67C>T

Surrounding Variants

1 paper

NM_000521.4

p.L23_A25delFs

c.68_75del8

1 paper

NM_000521.4

p.L23P

c.68T>C

1 paper

NM_000521.4

p.L22insFs

c.65_66ins5

1 paper

NM_000521.4

p.L22fs

c.64_65fs

1 paper

NM_000521.4

p.L22delFs

c.64_65delCT

1 paper

NM_000521.4

p.T21insFs

c.62_63insG

1 paper

NM_000521.4

p.T21delFs

c.61delA

2 papers

NM_000521.4

p.M26delFs

c.76delA

1 paper

NM_000521.4

p.M26fs

c.76_77fs

1 paper

NM_000521.4

p.M26I

c.78G>A

1 paper

NM_000521.4

p.A28S

c.82G>T

3 papers

NM_000521.4

p.A28insFs

c.84dupG