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.E511K

c.1531G>A

Surrounding Variants

2 papers

NM_000521.4

p.R512delFs

c.1535_1536delGA

1 paper

NM_000521.4

p.R512fs

c.1534_1535fs

1 paper

NM_000521.4

p.G510_K517insFs

c.1529_1550dup22

1 paper

NM_000521.4

p.G510_E511Fs

c.1528_1532delinsACTAGTTTGFs

1 paper

NM_000521.4

p.L513F

c.1537C>T

6 papers

NM_000521.4

p.L513P

c.1538T>C

2 papers

NM_000521.4

p.W514*

c.1541G>A

2 papers

NM_000521.4

p.W514*

c.1542G>A

1 paper

NM_000521.4

p.S507_A508del1

c.1521_1523delTGC

1 paper

NM_000521.4

p.S507insFs

c.1519_1520insT

1 paper

NM_000521.4

p.S516F

c.1547C>T

4 papers

NM_000521.4

p.K517_D518insFs

c.1550_1553dup4