Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.G262R

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
13 papers
NM_152419.3
p.G262R
c.784G>A
Surrounding Variants
13 papers
NM_152419.3
p.G262R
c.784G>C
1 paper
NM_152419.3
p.G261E
c.782G>A
1 paper
NM_152419.3
p.K263fs
c.787_788fs
3 papers
NM_152419.3
p.N258I
c.773A>T
1 paper
NM_152419.3
p.V257I
c.769G>A
1 paper
NM_152419.3
p.L253F
c.757C>T
1 paper
NM_152419.3
p.S271N
c.812G>A
1 paper
NM_152419.3
p.N273delFs
c.817_818delAA
7 papers
NM_152419.3
p.N273K
c.819T>A
7 papers
NM_152419.3
p.N273K
c.819T>G
1 paper
NM_152419.3
p.G274R
c.820G>C
2 papers
NM_152419.3
p.G248Splc
c.744-2A>G
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