Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.I110N

HGSNAT

250 papers

RefSeq Summary

This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrom...

Gene Aliases

HGNC Name

heparan-alpha-glucosaminide N-acetyltransferase

HGNC Previous Symbol

TMEM76

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152419.3
p.I110N
c.329T>A
Surrounding Variants
1 paper
NM_152419.3
p.I110V
c.328A>G
2 papers
NM_152419.3
p.Q112K
c.334C>A
3 papers
NM_152419.3
p.L113Fs
c.338delinsAGAATATGFs
3 papers
NM_152419.3
p.L113P
c.338T>C
2 papers
NM_152419.3
p.N114N
c.342C>T
1 paper
NM_152419.3
p.T105A
c.313A>G
1 paper
NM_152419.3
p.S104I
c.311G>T
1 paper
NM_152419.3
p.A101P
c.301G>C
1 paper
NM_152419.3
p.K120E
c.358A>G
1 paper
NM_152419.3
p.A99V
c.296C>T
1 paper
NM_152419.3
p.A98T
c.292G>A
1 paper
NM_152419.3
p.A98insFs
c.292_293insC
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