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

9 papers

NM_000521.4

p.W57delFs

c.171delG

Surrounding Variants

3 papers

NM_000521.4

p.W57fs

c.169_170fs

1 paper

NM_000521.4

p.W57fs

c.169_170fs

1 paper

NM_000521.4

p.W57*

c.170G>A

1 paper

NM_000521.4

p.W57_L59delFs

c.169_175del7

1 paper

NM_000521.4

p.W57*

c.171G>A

5 papers

NM_000521.4

p.W57C

c.171G>C

4 papers

NM_000521.4

p.W57C

c.171G>T

1 paper

NM_000521.4

p.A55V

c.164C>T

1 paper

NM_000521.4

p.L59fs

c.175_176fs

1 paper

NM_000521.4

p.L59L

c.175C>T

3 papers

NM_000521.4

p.L59delFs

c.176delT

1 paper

NM_000521.4

p.P54T

c.160C>A