Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.L137P

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
9 papers
NM_152419.3
p.L137P
c.410T>C
Surrounding Variants
1 paper
NM_152419.3
p.L137F
c.409C>T
1 paper
NM_152419.3
p.K140delFs
c.419delA
7 papers
NM_152419.3
p.G133A
c.398G>C
1 paper
NM_152419.3
p.G133_N134insA
c.397_401ins3
1 paper
NM_152419.3
p.E131_F132insFs
c.393_394insG
1 paper
NM_152419.3
p.G130R
c.388G>A
1 paper
NM_152419.3
p.G130R
c.388G>C
1 paper
NM_152419.3
p.R128del1
c.382_383delAGA
1 paper
NM_152419.3
p.E126*
c.376G>T
13 papers
NM_152419.3
p.R124Splc
c.372-2A>G
1 paper
NM_152419.3
p.C151S
c.451T>A
1 paper
NM_152419.3
p.C151S
c.452G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."