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

3 papers

NM_000521.4

p.A40delFs

c.118delG

Surrounding Variants

1 paper

NM_000521.4

p.A40del1

c.118_119delGCG

2 papers

NM_000521.4

p.V39fs

c.115_116fs

1 paper

NM_000521.4

p.Q38Q

c.114G>A

1 paper

NM_000521.4

p.A40fs

c.118_119fs

1 paper

NM_000521.4

p.A40fs

c.118_119fs

7 papers

NM_000521.4

p.V39delFs

c.115delG

1 paper

NM_000521.4

p.V36_A40del0

c.108_119del12

1 paper

NM_000521.4

p.L35_V37Fs

c.104_110delinsTCCFs

1 paper

NM_000521.4

p.V36del1

c.106_108delGTG

1 paper

NM_000521.4

p.R44_S47del4

c.130_140del12

1 paper

NM_000521.4

p.R44P

c.131G>C

1 paper

NM_000521.4

p.A45delFs

c.135delC