Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.R344C

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
27 papers
NM_152419.3
p.R344C
c.1030C>T
Surrounding Variants
1 paper
NM_152419.3
p.I345_Q350delFs
c.1034_1049del16
13 papers
NM_152419.3
p.R344H
c.1031G>A
1 paper
NM_152419.3
p.I345F
c.1033A>T
1 paper
NM_152419.3
p.K342R
c.1025A>G
1 paper
NM_152419.3
p.K342E
c.1024A>G
1 paper
NM_152419.3
p.W340*
c.1019G>A
1 paper
NM_152419.3
p.V348M
c.1042G>A
1 paper
NM_152419.3
p.L349R
c.1046T>G
4 papers
NM_152419.3
p.Q350*
c.1048C>T
1 paper
NM_152419.3
p.L338Splc
c.1013-2A>C
1 paper
NM_152419.3
p.R351*
c.1051C>T
1 paper
NM_152419.3
p.R351Q
c.1052G>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."