Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.A360delFs

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.A360delFs
c.1079delC
Surrounding Variants
1 paper
NM_152419.3
p.V358M
c.1072G>A
1 paper
NM_152419.3
p.T355del1
c.1063_1064delACA
2 papers
NM_152419.3
p.A367T
c.1099G>A
1 paper
NM_152419.3
p.L352delFs
c.1056delG
1 paper
NM_152419.3
p.R351Q
c.1052G>A
1 paper
NM_152419.3
p.R351*
c.1051C>T
4 papers
NM_152419.3
p.Q350*
c.1048C>T
1 paper
NM_152419.3
p.L349R
c.1046T>G
1 paper
NM_152419.3
p.P371L
c.1112C>T
1 paper
NM_152419.3
p.V348M
c.1042G>A
1 paper
NM_152419.3
p.H373Y
c.1117C>T
1 paper
NM_152419.3
p.C374S
c.1120T>A
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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."