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.S82N

c.245G>A

Surrounding Variants

2 papers

NM_000521.4

p.N84S

c.251A>G

1 paper

NM_000521.4

p.T86A

c.256A>G

1 paper

NM_000521.4

p.T86fs

c.256_257fs

1 paper

NM_000521.4

p.T86_S90Fs

c.257_268delinsGCFs

1 paper

NM_000521.4

p.P74R

c.221C>G

2 papers

NM_000521.4

p.C91S

c.271T>A

2 papers

NM_000521.4

p.C91S

c.272G>C

1 paper

NM_000521.4

p.T92_L94del3

c.274_281del9

2 papers

NM_000521.4

p.L72F

c.214C>T

1 paper

NM_000521.4

p.T92T

c.276C>T

1 paper

NM_000521.4

p.L93L

c.277C>T

5 papers

NM_000521.4

p.E95delFs

c.283delG