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

1–12 of 505 variants

47 papers

NM_000521.4

p.P417L

c.1250C>T

25 papers

NM_000521.4

p.I207V

c.619A>G

22 papers

NM_000521.4

p.R505Q

c.1514G>A

20 papers

NM_000521.4

p.R284*

c.850C>T

20 papers

NM_000521.4

p.R533C

c.1597C>T

15 papers

NM_000521.4

p.P504S

c.1510C>T

15 papers

NM_000521.4

p.R533H

c.1598G>A

13 papers

NM_000521.4

p.K121R

c.362A>G

13 papers

NM_000521.4

p.W503Splc

c.1509-26G>A

12 papers

NM_000521.4

p.L62S

c.185T>C

12 papers

NM_000521.4

p.L223L

c.667C>T

12 papers

NM_000521.4

p.Y456S

c.1367A>C