Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.S541L

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
16 papers
NM_152419.3
p.S541L
c.1622C>T
Surrounding Variants
1 paper
NM_152419.3
p.S539S
c.1617C>T
9 papers
NM_152419.3
p.S539C
c.1616C>G
1 paper
NM_152419.3
p.T545A
c.1633A>G
1 paper
NM_152419.3
p.T545K
c.1634C>A
1 paper
NM_152419.3
p.L546_S548delFs
c.1638_1644del7
1 paper
NM_152419.3
p.S547fs
c.1639_1640fs
1 paper
NM_152419.3
p.I553F
c.1657A>T
1 paper
NM_152419.3
p.V556delFs
c.1667_1668delTC
1 paper
NM_152419.3
p.L557_Y558del0
c.1669_1674del6
2 papers
NM_152419.3
p.L557_Y558Fs
c.1669_1674delinsACATFs
3 papers
NM_152419.3
p.Y558*
c.1674C>A
3 papers
NM_152419.3
p.Y558*
c.1674C>G
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