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.L254P

c.761T>C

Surrounding Variants

4 papers

NM_000520.6

p.R252L

c.755G>T

1 paper

NM_000520.6

p.R252P

c.755G>C

8 papers

NM_000520.6

p.R252H

c.755G>A

1 paper

NM_000520.6

p.R252_E256del0

c.756_767del12

8 papers

NM_000520.6

p.R252C

c.754C>T

1 paper

NM_000520.6

p.F257S

c.770T>C

16 papers

NM_000520.6

p.D258H

c.772G>C

3 papers

NM_001318825.2

p.D269N

c.805G>A

NM_000520.6

p.D258N

c.772G>A

6 papers

NM_000520.6

p.G250V

c.749G>T

1 paper

NM_000520.6

p.G250A

c.749G>C

16 papers

NM_000520.6

p.G250D

c.749G>A

1 paper

NM_000520.6

p.G250R

c.748G>C