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.Y429*

c.1287T>A

Surrounding Variants

1 paper

NM_000521.4

p.Y429*

c.1287T>G

1 paper

NM_000521.4

p.P430_E432delFs

c.1288_1294del7

1 paper

NM_001292004.2

p.E206_E207delFs

c.618_619delGG

1 paper

NM_000521.4

p.S427G

c.1279A>G

2 papers

NM_000521.4

p.D426_S427insFs

c.1278_1279ins4

2 papers

NM_000521.4

p.D426insFs

c.1277_1278ins4

1 paper

NM_000521.4

p.D426N

c.1276G>A

1 paper

NM_000521.4

p.K425*

c.1273A>T

1 paper

NM_000521.4

p.R435_V436delFs

c.1305_1306delAG

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