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.S201F

c.602C>T

Surrounding Variants

1 paper

NM_000521.4

p.H202_R203insACC

c.604_608ins9

1 paper

NM_000521.4

p.R203insFs

c.607dupA

1 paper

NM_000521.4

p.H202H

c.606C>T

1 paper

NM_000521.4

p.R203fs

c.607_608fs

5 papers

NM_000521.4

p.G204E

c.611G>A

1 paper

NM_000521.4

p.I205V

c.613A>G

1 paper

NM_000521.4

p.S197_P198Fs

c.589_592delinsCTCCAFs

1 paper

NM_000521.4

p.L206del1

c.616_617delTTG

2 papers

NM_000521.4

p.D196N

c.586G>A

2 papers

NM_000521.4

p.I207L

c.619A>C

25 papers

NM_000521.4

p.I207V

c.619A>G

1 paper

NM_000521.4

p.I195V

c.583A>G