Varaico: Literature-Extracted Genetic Variants

Gene:GNPTG
Variant:p.R186Q

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
3 papers
NM_032520.5
p.R186Q
c.557G>A
Surrounding Variants
1 paper
NM_032520.5
p.R186W
c.556C>T
1 paper
NM_032520.5
p.W188R
c.562T>A
1 paper
NM_032520.5
p.W188R
c.562T>C
1 paper
NM_032520.5
p.Q190_V191delFs
c.568_571del4
2 papers
NM_032520.5
p.Q190L
c.569A>T
2 papers
NM_032520.5
p.V191I
c.571G>A
2 papers
NM_032520.5
p.E192Q
c.574G>C
1 paper
NM_032520.5
p.Q193Fs
c.577delinsACFs
2 papers
NM_032520.5
p.V176fs
c.526_527fs
6 papers
NM_032520.5
p.V176Splc
c.527-10G>A
4 papers
NM_032520.5
p.Q203insFs
c.607dupC
1 paper
NM_032520.5
p.T201A
c.601A>G
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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."