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.D208V

c.623A>T

Surrounding Variants

1 paper

NM_000521.4

p.D208N

c.622G>A

1 paper

NM_000521.4

p.D208delFs

c.622delG

7 papers

NM_000521.4

p.T209I

c.626C>T

2 papers

NM_000521.4

p.I207L

c.619A>C

25 papers

NM_000521.4

p.I207V

c.619A>G

1 paper

NM_000521.4

p.S210F

c.629C>T

1 paper

NM_000521.4

p.L206del1

c.616_617delTTG

1 paper

NM_000521.4

p.R211K

c.632G>A

1 paper

NM_000521.4

p.I205V

c.613A>G

3 papers

NM_000521.4

p.H212N

c.634C>A

3 papers

NM_000521.4

p.H212Y

c.634C>T

5 papers

NM_000521.4

p.G204E

c.611G>A