Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.E471K

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
15 papers
NM_152419.3
p.E471K
c.1411G>A
Surrounding Variants
1 paper
NM_152419.3
p.G472S
c.1414G>A
1 paper
NM_152419.3
p.L474_G486insFs
c.1420_1456dup37
1 paper
NM_152419.3
p.E465K
c.1393G>A
1 paper
NM_152419.3
p.T464insFs
c.1390_1391insA
1 paper
NM_152419.3
p.S479C
c.1436C>G
4 papers
NM_152419.3
p.V481L
c.1441G>C
5 papers
NM_152419.3
p.V481L
c.1441G>T
2 papers
NM_152419.3
p.A459_V460Splc
c.1378-1G>A
6 papers
NM_152419.3
p.M482K
c.1445T>A
1 paper
NM_152419.3
p.L485*
c.1454T>A
1 paper
NM_152419.3
p.G486*
c.1456G>T
5 papers
NM_152419.3
p.G486E
c.1457G>A
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