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.Y526insFs

c.1577dupA

Surrounding Variants

1 paper

NM_000521.4

p.Y526_T530insFs

c.1578_1590dup13

1 paper

NM_000521.4

p.Y526*

c.1578T>G

1 paper

NM_000521.4

p.D523Y

c.1567G>T

1 paper

NM_000521.4

p.L529R

c.1586T>G

1 paper

NM_000521.4

p.M522V

c.1564A>G

1 paper

NM_000521.4

p.M522fs

c.1564_1565fs

4 papers

NM_000521.4

p.D521_A525delFs

c.1563_1573del11

3 papers

NM_000521.4

p.R531insFs

c.1591_1592insC

1 paper

NM_000521.4

p.R531fs

c.1591_1592fs

1 paper

NM_000521.4

p.D521Y

c.1561G>T

1 paper

NM_000521.4

p.R520G

c.1558A>G

20 papers

NM_000521.4

p.R533C

c.1597C>T