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

13 papers

NM_000521.4

p.K121R

c.362A>G

Surrounding Variants

1 paper

NM_000521.4

p.A120T

c.358G>A

1 paper

NM_000521.4

p.V124A

c.371T>C

1 paper

NM_000521.4

p.Q126P

c.377A>C

2 papers

NM_000521.4

p.A116P

c.346G>C

1 paper

NM_000521.4

p.L128R

c.383T>G

1 paper

NM_000521.4

p.E114_P115del1

c.341_343delAAC

1 paper

NM_000521.4

p.S130L

c.389C>T

1 paper

NM_000521.4

p.H112fs

c.334_335fs

4 papers

NM_000521.4

p.W111*

c.333G>A

4 papers

NM_000521.4

p.W111*

c.332G>A

1 paper

NM_000521.4

p.I131_T132insFs

c.393_394insC

1 paper

NM_000521.4

p.H112_A120delFs

c.335_359del25