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

2 papers

NM_000521.4

p.C534F

c.1601G>T

Surrounding Variants

8 papers

NM_000521.4

p.C534Y

c.1601G>A

2 papers

NM_000521.4

p.C534S

c.1601G>C

2 papers

NM_000521.4

p.C534*

c.1602C>A

15 papers

NM_000521.4

p.R533H

c.1598G>A

2 papers

NM_000521.4

p.C534_V537del4

c.1600_1610del12

20 papers

NM_000521.4

p.R533C

c.1597C>T

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.E538_R539ins6

c.1612_1616ins18

4 papers

NM_000521.4

p.E538Splc

c.1613+2T>G

1 paper

NM_000521.4

p.L529R

c.1586T>G

1 paper

NM_000521.4

p.Y526*

c.1578T>G