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.P46S

c.136C>T

Surrounding Variants

1 paper

NM_000521.4

p.P46A

c.136C>G

1 paper

NM_000521.4

p.P46delins

c.136_138delinsTAA

1 paper

NM_000521.4

p.P46R

c.137C>G

1 paper

NM_000521.4

p.A45delFs

c.135delC

1 paper

NM_000521.4

p.R44P

c.131G>C

1 paper

NM_000521.4

p.R44_S47del4

c.130_140del12

2 papers

NM_000521.4

p.S49*

c.146C>A

1 paper

NM_000521.4

p.A40fs

c.118_119fs

1 paper

NM_000521.4

p.A40fs

c.118_119fs

1 paper

NM_000521.4

p.P52Q

c.155C>A

3 papers

NM_000521.4

p.A40delFs

c.118delG

1 paper

NM_000521.4

p.A40del1

c.118_119delGCG