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.I335L

c.1003A>C

Surrounding Variants

5 papers

NM_000520.6

p.I335F

c.1003A>T

2 papers

NM_000520.6

p.Q336H

c.1008G>T

2 papers

NM_000520.6

p.Q336H

c.1008G>C

1 paper

NM_000520.6

p.S331_N332insFs

c.993_994ins32

1 paper

NM_000520.6

p.S331Y

c.992C>A

2 papers

NM_000520.6

p.W329C

c.987G>C

2 papers

NM_000520.6

p.W329*

c.987G>A

1 paper

NM_000520.6

p.W329*

c.986G>A

1 paper

NM_000520.6

p.K341R

c.1022A>G

3 papers

NM_000520.6

p.W329Splc

c.987-7G>A

2 papers

NM_000520.6

p.G343V

c.1028G>T

1 paper

NM_000520.6

p.F344S

c.1031T>C