Varaico: Literature-Extracted Genetic Variants

Gene:GNPTG
Variant:p.H63Y

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.H63Y
c.187C>T
Surrounding Variants
1 paper
NM_032520.5
p.V62M
c.184G>A
1 paper
NM_032520.5
p.G60E
c.179G>A
9 papers
NM_032520.5
p.R66*
c.196C>T
1 paper
NM_032520.5
p.R66Q
c.197G>A
1 paper
NM_032520.5
p.K70M
c.209A>T
1 paper
NM_032520.5
p.E76G
c.227A>G
1 paper
NM_032520.5
p.S77Y
c.230C>A
1 paper
NM_032520.5
p.T78R
c.233C>G
2 papers
NM_032520.5
p.T78M
c.233C>T
1 paper
NM_032520.5
p.T78Splc
c.233+1G>A
1 paper
NM_032520.5
p.T78Splc
c.233+5G>A
1 paper
NM_032520.5
p.T78Splc
c.233+5G>C
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