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

2 papers

NM_000521.4

p.P9insFs

c.26dupC

Surrounding Variants

1 paper

NM_000521.4

p.L8delFs

c.24delG

1 paper

NM_000521.4

p.L8insFs

c.23dupT

1 paper

NM_000521.4

p.G7G

c.21G>A

1 paper

NM_000521.4

p.G7R

c.19G>A

4 papers

NM_000521.4

p.L6insFs

c.18dupG

1 paper

NM_000521.4

p.G5R

c.13G>A

2 papers

NM_000521.4

p.L3_C4insFs

c.9_10insC

1 paper

NM_000521.4

p.L14insFs

c.40dupC

2 papers

NM_000521.4

p.C4insFs

c.10_11insT

1 paper

NM_000521.4

p.L15_A16delFs

c.44_47del4

1 paper

NM_000521.4

p.E2G

c.5A>G

1 paper

NM_000521.4

p.M1_E2insFs

c.3_4ins4