Varaico: Literature-Extracted Genetic Variants

Gene:GNPTG
Variant:p.H172Q

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.H172Q
c.516C>G
Surrounding Variants
1 paper
NM_032520.5
p.H172Q
c.516C>A
1 paper
NM_032520.5
p.A173delFs
c.517delG
1 paper
NM_032520.5
p.H172insFs
c.516dupC
1 paper
NM_032520.5
p.H172delFs
c.516delC
1 paper
NM_032520.5
p.H172_A173delFs
c.516_517delCG
1 paper
NM_032520.5
p.A173T
c.517G>A
1 paper
NM_032520.5
p.A173insFs
c.517_518insA
1 paper
NM_032520.5
p.A173fs
c.517_518fs
3 papers
NM_032520.5
p.H172fs
c.514_515fs
2 papers
NM_032520.5
p.H172insFs
c.514dupC
1 paper
NM_032520.5
p.H172delFs
c.514delC
1 paper
NM_032520.5
p.L175Fs
c.523_524delinsGFs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."