Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.A615T

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
36 papers
NM_152419.3
p.A615T
c.1843G>A
Surrounding Variants
1 paper
NM_152419.3
p.V614A
c.1841T>C
1 paper
NM_152419.3
p.I613_W619del7
c.1837_1856del21
1 paper
NM_152419.3
p.W619S
c.1856G>C
1 paper
NM_152419.3
p.L621F
c.1861C>T
1 paper
NM_152419.3
p.L621L
c.1863C>T
1 paper
NM_152419.3
p.Y624*
c.1872C>A
1 paper
NM_152419.3
p.Y624*
c.1872C>G
9 papers
NM_152419.3
p.Y627C
c.1880A>G
1 paper
NM_152419.3
p.K629N
c.1887G>C
1 paper
NM_152419.3
p.K629N
c.1887G>T
1 paper
NM_152419.3
p.I631insFs
c.1892_1893insA
1 paper
NM_152419.3
p.I631M
c.1893T>G
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