Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.N536insFs

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.N536insFs
c.1606_1607ins4
Surrounding Variants
2 papers
NM_152419.3
p.N534D
c.1600A>G
1 paper
NM_152419.3
p.L537delFs
c.1610delT
1 paper
NM_152419.3
p.P532S
c.1594C>T
7 papers
NM_152419.3
p.K523Q
c.1567A>C
2 papers
NM_152419.3
p.T522M
c.1565C>T
18 papers
NM_152419.3
p.S518F
c.1553C>T
1 paper
NM_152419.3
p.L514_G515Splc
c.1543-1G>A
1 paper
NM_152419.3
p.L514_G515Splc
c.1543-2A>C
9 papers
NM_152419.3
p.S539C
c.1616C>G
1 paper
NM_152419.3
p.S539S
c.1617C>T
16 papers
NM_152419.3
p.S541L
c.1622C>T
1 paper
NM_152419.3
p.T545A
c.1633A>G
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