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

12 papers

NM_000521.4

p.Y456S

c.1367A>C

Surrounding Variants

1 paper

NM_000521.4

p.Y456_G457del1

c.1367_1369delATG

1 paper

NM_000521.4

p.S455N

c.1364G>A

2 papers

NM_000521.4

p.Q458*

c.1372C>T

1 paper

NM_000521.4

p.L453F

c.1359G>C

1 paper

NM_000521.4

p.L453F

c.1359G>T

5 papers

NM_000521.4

p.D459A

c.1376A>C

1 paper

NM_000521.4

p.W460R

c.1378T>A

2 papers

NM_000521.4

p.W460R

c.1378T>C

1 paper

NM_000521.4

p.D452delFs

c.1356delT

2 papers

NM_000521.4

p.D452N

c.1354G>A

1 paper

NM_000521.4

p.W460C

c.1380G>C

1 paper

NM_000521.4

p.W460C

c.1380G>T