Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.C380S

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.C380S
c.1138T>A
Surrounding Variants
1 paper
NM_152419.3
p.C380S
c.1139G>C
2 papers
NM_152419.3
p.C380insFs
c.1138_1139ins5
1 paper
NM_152419.3
p.R384_T387del4
c.1150_1160del12
1 paper
NM_152419.3
p.S376_E377Splc
c.1129-3C>G
21 papers
NM_152419.3
p.R384*
c.1150C>T
1 paper
NM_152419.3
p.W390fs
c.1168_1169fs
1 paper
NM_152419.3
p.W390delFs
c.1170delG
1 paper
NM_152419.3
p.W390fs
c.1168_1169fs
1 paper
NM_152419.3
p.P391L
c.1172C>T
1 paper
NM_152419.3
p.L402L
c.1204C>T
5 papers
NM_152419.3
p.W403*
c.1208G>A
5 papers
NM_152419.3
p.W403*
c.1209G>A
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