Varaico: Literature-Extracted Genetic Variants

Gene:GNPTG
Variant:p.E224fs

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.E224fs
c.670_671fs
Surrounding Variants
1 paper
NM_032520.5
p.E223Q
c.667G>C
1 paper
NM_032520.5
p.E226K
c.676G>A
1 paper
NM_032520.5
p.K220N
c.660G>C
1 paper
NM_032520.5
p.K220N
c.660G>T
4 papers
NM_032520.5
p.Y218*
c.654C>A
4 papers
NM_032520.5
p.Y218*
c.654C>G
6 papers
NM_032520.5
p.L230V
c.688C>G
3 papers
NM_032520.5
p.Y218_L219delFs
c.654_657del4
1 paper
NM_032520.5
p.G217fs
c.649_650fs
1 paper
NM_032520.5
p.E231G
c.692A>G
2 papers
NM_032520.5
p.A216V
c.647C>T
1 paper
NM_032520.5
p.E231D
c.693G>C
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