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.R272C

c.814C>T

Surrounding Variants

1 paper

NM_000521.4

p.R272insFs

c.816dupT

1 paper

NM_000521.4

p.M273fs

c.817_818fs

1 paper

NM_000521.4

p.V274_E276delFs

c.820_826del7

1 paper

NM_000521.4

p.D270G

c.809A>G

3 papers

NM_000521.4

p.V274E

c.821T>A

1 paper

NM_000521.4

p.I275V

c.823A>G

1 paper

NM_000521.4

p.I275delFs

c.825delT

1 paper

NM_000521.4

p.I275T

c.824T>C

2 papers

NM_000521.4

p.E276_Y277delFs

c.826_829del4

1 paper

NM_000521.4

p.P268Q

c.803C>A

1 paper

NM_001292004.2

p.P43L

c.128C>T

1 paper

NM_000521.4

p.E276fs

c.826_827fs