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.S261_L262delFs

c.782_785del4

Surrounding Variants

1 paper

NM_000521.4

p.Y260F

c.779A>T

1 paper

NM_000521.4

p.Y260H

c.778T>C

1 paper

NM_000521.4

p.S259G

c.775A>G

1 paper

NM_000521.4

p.G258delFs

c.772delG

1 paper

NM_000521.4

p.K257_G258Splc

c.772-4A>G

1 paper

NM_000521.4

p.V265F

c.793G>T

1 paper

NM_000521.4

p.V265A

c.794T>C

6 papers

NM_000521.4

p.Y266D

c.796T>G

1 paper

NM_000521.4

p.Y266C

c.797A>G

2 papers

NM_000521.4

p.T267_M273del0

c.800_817del18

1 paper

NM_000521.4

p.P268Q

c.803C>A

1 paper

NM_001292004.2

p.P43L

c.128C>T