Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.Y583Y

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
5 papers
NM_152419.3
p.Y583Y
c.1749T>C
Surrounding Variants
1 paper
NM_152419.3
p.Y583*
c.1749T>A
1 paper
NM_152419.3
p.Y583*
c.1749T>G
1 paper
NM_152419.3
p.V584delFs
c.1750delG
1 paper
NM_152419.3
p.G585S
c.1753G>A
1 paper
NM_152419.3
p.G585C
c.1753G>T
1 paper
NM_152419.3
p.V582I
c.1744G>A
1 paper
NM_152419.3
p.V582fs
c.1744_1745fs
1 paper
NM_152419.3
p.L581delFs
c.1743delG
2 papers
NM_152419.3
p.E587K
c.1759G>A
1 paper
NM_152419.3
p.E590V
c.1769A>T
1 paper
NM_152419.3
p.P594S
c.1780C>T
1 paper
NM_152419.3
p.I613_W619del7
c.1837_1856del21
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