Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.T276A

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.T276A
c.826A>G
Surrounding Variants
1 paper
NM_152419.3
p.D279N
c.835G>A
1 paper
NM_152419.3
p.V281L
c.841G>C
1 paper
NM_152419.3
p.V281L
c.841G>T
14 papers
NM_152419.3
p.P283L
c.848C>T
1 paper
NM_152419.3
p.P283P
c.849G>A
1 paper
NM_152419.3
p.W284C
c.852G>C
1 paper
NM_152419.3
p.W284C
c.852G>T
1 paper
NM_152419.3
p.W284Splc
c.851+5G>A
1 paper
NM_152419.3
p.W284Splc
c.851+171T>A
1 paper
NM_152419.3
p.G274R
c.820G>C
7 papers
NM_152419.3
p.N273K
c.819T>A
7 papers
NM_152419.3
p.N273K
c.819T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."