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

9 papers

NM_000521.4

p.Y149Splc

c.445+1G>A

Surrounding Variants

2 papers

NM_000521.4

p.Y149Splc

c.445+1G>C

1 paper

NM_000521.4

p.Y149Splc

c.445+1G>T

1 paper

NM_000521.4

p.E147*

c.439G>T

1 paper

NM_000521.4

p.S145L

c.434C>T

1 paper

NM_000521.4

p.I143I

c.429A>C

1 paper

NM_000521.4

p.N142D

c.424A>G

1 paper

NM_000521.4

p.P141L

c.422C>T

1 paper

NM_000521.4

p.P141S

c.421C>T

1 paper

NM_000521.4

p.A139P

c.415G>C

9 papers

NM_000521.4

p.C137Y

c.410G>A

1 paper

NM_000521.4

p.S135delFs

c.404_405delCA

1 paper

NM_000521.4

p.S135del1

c.403_405delTCA