Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.D161G

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.D161G
c.482A>G
Surrounding Variants
2 papers
NM_152419.3
p.V160A
c.479T>C
1 paper
NM_152419.3
p.S162R
c.486T>G
2 papers
NM_152419.3
p.P159S
c.475C>T
1 paper
NM_152419.3
p.P165S
c.493C>T
16 papers
NM_152419.3
p.P165Splc
c.493+1G>A
2 papers
NM_152419.3
p.P165Splc
c.493+5G>A
1 paper
NM_152419.3
p.A154V
c.461C>T
1 paper
NM_152419.3
p.P165Splc
c.493+13T>A
1 paper
NM_152419.3
p.D152E
c.456C>A
1 paper
NM_152419.3
p.D152E
c.456C>G
1 paper
NM_152419.3
p.D152N
c.454G>A
1 paper
NM_152419.3
p.C151S
c.452G>C
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