Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.R124Splc

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.R124Splc
c.371+82C>T
Surrounding Variants
1 paper
NM_152419.3
p.R124T
c.371G>C
8 papers
NM_152419.3
p.R124W
c.370A>T
4 papers
NM_152419.3
p.R124fs
c.370_371fs
1 paper
NM_152419.3
p.C123S
c.368G>C
1 paper
NM_152419.3
p.C123S
c.367T>A
1 paper
NM_152419.3
p.K120E
c.358A>G
1 paper
NM_152419.3
p.R124Splc
c.372-34A>G
2 papers
NM_152419.3
p.N114N
c.342C>T
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.Q112K
c.334C>A
1 paper
NM_152419.3
p.I110N
c.329T>A
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