Varaico: Literature-Extracted Genetic Variants

HEXA

462 papers

RefSeq Summary

This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosamini...

Pfam Domains

Glycohydro_20b2aa 23–145UCSCbeta-acetyl hexosaminidase like

Glyco_hydro_20aa 167–488UCSCGlycosyl hydrolase family 20, catalytic domain

Gene Aliases

HGNC Name

hexosaminidase subunit alpha

HGNC Previous Name

hexosaminidase A (alpha polypeptide)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000520.6

p.F155C

c.464T>G

Surrounding Variants

1 paper

NM_000520.6

p.F155fs

c.463_464fs

1 paper

NM_000520.6

p.F155delFs

c.465delA

2 papers

NM_000520.6

p.T153_F154Splc

c.460-1G>T

1 paper

NM_000520.6

p.T153_F154Splc

c.460-1G>C

1 paper

NM_000520.6

p.T153_F154Splc

c.460-1G>A

1 paper

NM_000520.6

p.K158T

c.473A>C

1 paper

NM_000520.6

p.E162fs

c.484_485fs

1 paper

NM_000520.6

p.E162delFs

c.484delC

2 papers

NM_000520.6

p.D163G

c.488A>G

1 paper

NM_000520.6

p.T153_F154Splc

c.460-22G>A

6 papers

NM_000520.6

p.R166G

c.496C>G

1 paper

NM_000520.6

p.R166fs

c.496_497fs