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

3 papers

NM_000521.4

p.D470fs

c.1408_1409fs

Surrounding Variants

8 papers

NM_000521.4

p.P468delFs

c.1404delT

8 papers

NM_000521.4

p.G473S

c.1417G>A

2 papers

NM_000521.4

p.E467K

c.1399G>A

4 papers

NM_000521.4

p.G473Splc

c.1417+1G>A

1 paper

NM_000521.4

p.V466_E467insFs

c.1398_1399insT

9 papers

NM_000521.4

p.G473Splc

c.1417+5G>A

1 paper

NM_000521.4

p.K465E

c.1393A>G

1 paper

NM_000521.4

p.Y464insFs

c.1390_1391insA

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.K462I

c.1385A>T

1 paper

NM_000521.4

p.R461delFs

c.1382_1383delGG