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.H294Q

c.882T>A

Surrounding Variants

1 paper

NM_000521.4

p.H294Q

c.882T>G

1 paper

NM_000521.4

p.T295delFs

c.883delA

1 paper

NM_000521.4

p.H294R

c.881A>G

4 papers

NM_000521.4

p.T295R

c.884C>G

1 paper

NM_000521.4

p.P292L

c.875C>T

1 paper

NM_000521.4

p.W298delFs

c.892delT

1 paper

NM_000521.4

p.T291_P292insC

c.871_875ins3

1 paper

NM_000521.4

p.G301R

c.901G>C

1 paper

NM_000521.4

p.L286L

c.856C>T

1 paper

NM_000521.4

p.V285I

c.853G>A

5 papers

NM_000521.4

p.R284Q

c.851G>A

1 paper

NM_000521.4

p.R284L

c.851G>T