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.Q32L

c.95A>T

Surrounding Variants

4 papers

NM_000521.4

p.Q32*

c.94C>T

1 paper

NM_000521.4

p.V33M

c.97G>A

1 paper

NM_000521.4

p.T31_Q32del1

c.92_94delCTC

1 paper

NM_000521.4

p.L30P

c.89T>C

1 paper

NM_000521.4

p.V36del1

c.106_108delGTG

1 paper

NM_000521.4

p.L29L

c.87G>A

1 paper

NM_000521.4

p.L29Q

c.86T>A

1 paper

NM_000521.4

p.L29fs

c.85_86fs

1 paper

NM_000521.4

p.L35_V37Fs

c.104_110delinsTCCFs

3 papers

NM_000521.4

p.A28insFs

c.84dupG

1 paper

NM_000521.4

p.V36_A40del0

c.108_119del12

1 paper

NM_000521.4

p.A28S

c.82G>T