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

20 papers

NM_000521.4

p.R284*

c.850C>T

Surrounding Variants

5 papers

NM_000521.4

p.R284Q

c.851G>A

1 paper

NM_000521.4

p.R284L

c.851G>T

1 paper

NM_000521.4

p.I283_R284del1

c.849_851delTCG

1 paper

NM_000521.4

p.V285I

c.853G>A

3 papers

NM_000521.4

p.G282E

c.845G>A

1 paper

NM_000521.4

p.L286L

c.856C>T

1 paper

NM_000521.4

p.R281Q

c.842G>A

2 papers

NM_000521.4

p.R281*

c.841C>T

1 paper

NM_000521.4

p.L280*

c.839T>G

1 paper

NM_000521.4

p.L280fs

c.838_839fs

1 paper

NM_000521.4

p.A278A

c.834C>G

1 paper

NM_000521.4

p.A278G

c.833C>G