Varaico: Literature-Extracted Genetic Variants

Gene:GNPTG
Variant:p.S102G

GNPTG

126 papers

RefSeq Summary

This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis ...

Pfam Domains

PRKCSHaa 69–129UCSCGlucosidase II beta subunit-like protein

Gene Aliases

HGNC Name

N-acetylglucosamine-1-phosphate transferase subunit gamma

HGNC Previous Symbols

GNPTAG; C16orf27

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032520.5
p.S102G
c.304A>G
Surrounding Variants
8 papers
NM_032520.5
p.G106S
c.316G>A
2 papers
NM_032520.5
p.G106C
c.316G>T
1 paper
NM_032520.5
p.W98insFs
c.292_293insC
1 paper
NM_032520.5
p.R97H
c.290G>A
1 paper
NM_032520.5
p.R97P
c.290G>C
1 paper
NM_032520.5
p.R97_W98insFs
c.291_292insC
1 paper
NM_032520.5
p.R97C
c.289C>T
2 papers
NM_032520.5
p.F96fs
c.286_287fs
2 papers
NM_032520.5
p.T95insFs
c.285dupC
2 papers
NM_032520.5
p.E93K
c.277G>A
1 paper
NM_032520.5
p.H92Q
c.276C>A
1 paper
NM_032520.5
p.H92Q
c.276C>G
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