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.S507insFs

c.1519_1520insT

Surrounding Variants

1 paper

NM_000521.4

p.S507_A508del1

c.1521_1523delTGC

22 papers

NM_000521.4

p.R505Q

c.1514G>A

1 paper

NM_000521.4

p.R505P

c.1514G>C

1 paper

NM_000521.4

p.A506_G510insFs

c.1517_1529dup13

1 paper

NM_000521.4

p.R505G

c.1513C>G

6 papers

NM_000521.4

p.R505W

c.1513C>T

1 paper

NM_000521.4

p.R505_A506delFs

c.1514_1518del5

15 papers

NM_000521.4

p.P504S

c.1510C>T

1 paper

NM_000521.4

p.G510_K517insFs

c.1529_1550dup22

1 paper

NM_000521.4

p.G510_E511Fs

c.1528_1532delinsACTAGTTTGFs

3 papers

NM_000521.4

p.P504delFs

c.1510delC

2 papers

NM_000521.4

p.R512delFs

c.1535_1536delGA