Varaico: Literature-Extracted Genetic Variants

Gene:GNPTG
Variant:p.G217fs

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.G217fs
c.649_650fs
Surrounding Variants
2 papers
NM_032520.5
p.A216V
c.647C>T
3 papers
NM_032520.5
p.Y218_L219delFs
c.654_657del4
1 paper
NM_032520.5
p.A216_G217delFs
c.648_651del4
4 papers
NM_032520.5
p.Y218*
c.654C>A
4 papers
NM_032520.5
p.Y218*
c.654C>G
1 paper
NM_032520.5
p.E214fs
c.640_641fs
2 papers
NM_032520.5
p.E214_E223delFs
c.640_667del28
1 paper
NM_032520.5
p.K220N
c.660G>C
1 paper
NM_032520.5
p.K220N
c.660G>T
1 paper
NM_032520.5
p.F213fs
c.637_638fs
4 papers
NM_032520.5
p.F213delFs
c.639delT
2 papers
NM_032520.5
p.L212delFs
c.635_636delTT
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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."