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.R100Splc

c.300-1G>A

Surrounding Variants

1 paper

NM_000521.4

p.R100Splc

c.300-2A>G

1 paper

NM_000521.4

p.H102fs

c.304_305fs

2 papers

NM_000521.4

p.Y104C

c.311A>G

1 paper

NM_000521.4

p.F106insFs

c.316dupT

1 paper

NM_000521.4

p.I105T

c.314T>C

1 paper

NM_000521.4

p.F106_F108del3

c.316_323del9

1 paper

NM_000521.4

p.F108_Q119del12

c.322_356del36

1 paper

NM_000521.4

p.Y109insFs

c.325dupT

1 paper

NM_000521.4

p.Y109fs

c.325_326fs

1 paper

NM_000521.4

p.R100Splc

c.300-32C>T

1 paper

NM_000521.4

p.H112_A120delFs

c.335_359del25

4 papers

NM_000521.4

p.W111*

c.332G>A