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.I444M

c.1332C>G

Surrounding Variants

1 paper

NM_000521.4

p.W449delFs

c.1345delT

1 paper

NM_000521.4

p.L451insFs

c.1353dupA

2 papers

NM_000521.4

p.D452N

c.1354G>A

1 paper

NM_000521.4

p.D452fs

c.1354_1355fs

3 papers

NM_000521.4

p.T437P

c.1309A>C

1 paper

NM_000521.4

p.D452delFs

c.1356delT

1 paper

NM_000521.4

p.L453F

c.1359G>C

1 paper

NM_000521.4

p.L453F

c.1359G>T

1 paper

NM_000521.4

p.R435insFs

c.1303_1304insCT

1 paper

NM_000521.4

p.R435*

c.1303A>T

1 paper

NM_000521.4

p.R435fs

c.1303_1304fs

1 paper

NM_000521.4

p.R435_V436delFs

c.1305_1306delAG