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.Y464insFs

c.1390_1391insA

Surrounding Variants

5 papers

NM_000521.4

p.Y463*

c.1389C>A

5 papers

NM_000521.4

p.Y463*

c.1389C>G

1 paper

NM_000521.4

p.K465E

c.1393A>G

1 paper

NM_000521.4

p.K462I

c.1385A>T

1 paper

NM_000521.4

p.V466_E467insFs

c.1398_1399insT

1 paper

NM_000521.4

p.R461delFs

c.1382_1383delGG

2 papers

NM_000521.4

p.E467K

c.1399G>A

1 paper

NM_000521.4

p.W460C

c.1380G>C

1 paper

NM_000521.4

p.W460C

c.1380G>T

1 paper

NM_000521.4

p.W460R

c.1378T>A

2 papers

NM_000521.4

p.W460R

c.1378T>C

8 papers

NM_000521.4

p.P468delFs

c.1404delT