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.R100L

c.299G>T

Surrounding Variants

3 papers

NM_000521.4

p.R100*

c.298C>T

1 paper

NM_000521.4

p.R100fs

c.298_299fs

6 papers

NM_000521.4

p.R100delFs

c.298delC

2 papers

NM_000521.4

p.R100Splc

c.299+5G>A

1 paper

NM_000521.4

p.F98insFs

c.292_293insC

1 paper

NM_000521.4

p.A97_F98insFs

c.291_292insC

2 papers

NM_000521.4

p.A97P

c.289G>C

5 papers

NM_000521.4

p.E95delFs

c.283delG

1 paper

NM_000521.4

p.L93L

c.277C>T

1 paper

NM_000521.4

p.T92T

c.276C>T

1 paper

NM_000521.4

p.T92_L94del3

c.274_281del9

2 papers

NM_000521.4

p.C91S

c.272G>C