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

60 papers

NM_000520.6

p.G269S

c.805G>A

NM_001318825.2

p.G280S

c.838G>A

Surrounding Variants

4 papers

NM_000520.6

p.G269R

c.805G>C

5 papers

NM_000520.6

p.G269Splc

c.805+1G>C

6 papers

NM_000520.6

p.G269Splc

c.805+1G>A

1 paper

NM_000520.6

p.G269Splc

c.805+2T>C

1 paper

NM_000520.6

p.G269delFs

c.805delC

1 paper

NM_000520.6

p.P268L

c.803C>T

1 paper

NM_000520.6

p.G267R

c.799G>C

1 paper

NM_000520.6

p.G267R

c.799G>A

3 papers

NM_000520.6

p.W266G

c.796T>G

1 paper

NM_000520.6

p.S265S

c.795C>A

1 paper

NM_000520.6

p.S265A

c.793T>G

1 paper

NM_000520.6

p.H262_L264del3

c.784_791del9