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.V63V

c.189G>A

Surrounding Variants

1 paper

NM_000521.4

p.K64R

c.191A>G

1 paper

NM_000521.4

p.K64N

c.192G>T

12 papers

NM_000521.4

p.L62S

c.185T>C

1 paper

NM_000521.4

p.L61delFs

c.183delC

1 paper

NM_000521.4

p.P67delFs

c.201delG

1 paper

NM_000521.4

p.N68_E75del8

c.202_224del24

1 paper

NM_000521.4

p.N68ins1

c.202_203insACC

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.L69L

c.205C>T

1 paper

NM_000521.4

p.W57*

c.171G>A