Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.T417I

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
2 papers
NM_152419.3
p.T417I
c.1250C>T
Surrounding Variants
6 papers
NM_152419.3
p.T417Splc
c.1250+1G>A
1 paper
NM_152419.3
p.T417Splc
c.1250+2T>C
3 papers
NM_152419.3
p.P413S
c.1237C>T
1 paper
NM_152419.3
p.L410M
c.1228C>A
1 paper
NM_152419.3
p.T407I
c.1220C>T
2 papers
NM_152419.3
p.L406F
c.1218G>C
1 paper
NM_152419.3
p.L406F
c.1218G>T
1 paper
NM_152419.3
p.L406_T407delins
c.1218_1220delinsTAT
1 paper
NM_152419.3
p.L406S
c.1217T>C
1 paper
NM_152419.3
p.L406W
c.1217T>G
5 papers
NM_152419.3
p.W403*
c.1209G>A
12 papers
NM_152419.3
p.W403C
c.1209G>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."