Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.H78_C79Splc

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
28 papers
NM_152419.3
p.H78_C79Splc
c.234+1G>A
Surrounding Variants
1 paper
NM_152419.3
p.H78_C79Splc
c.234+5G>A
8 papers
NM_152419.3
p.C76F
c.227G>T
1 paper
NM_152419.3
p.E74ins2
c.220_221ins6
1 paper
NM_152419.3
p.Y70*
c.210C>A
1 paper
NM_152419.3
p.Y70*
c.210C>G
1 paper
NM_152419.3
p.W71_K72delFs
c.211_214del4
1 paper
NM_152419.3
p.Y70Fs
c.209delinsGAATGFs
1 paper
NM_152419.3
p.Y70fs
c.208_209fs
1 paper
NM_152419.3
p.V69_Y70insFs
c.207_208insCA
5 papers
NM_152419.3
p.V69I
c.205G>A
1 paper
NM_152419.3
p.T68T
c.204C>T
1 paper
NM_152419.3
p.N66fs
c.196_197fs
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