Varaico: Literature-Extracted Genetic Variants

Gene:GNPTG
Variant:p.G238E

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.G238E
c.713G>A
Surrounding Variants
4 papers
NM_032520.5
p.G238_E243del6
c.712_728del18
1 paper
NM_032520.5
p.T241A
c.721A>G
1 paper
NM_032520.5
p.P234P
c.702T>C
1 paper
NM_032520.5
p.P234T
c.700C>A
1 paper
NM_032520.5
p.N244I
c.731A>T
1 paper
NM_032520.5
p.E231D
c.693G>C
1 paper
NM_032520.5
p.E231D
c.693G>T
1 paper
NM_032520.5
p.G232_P234del3
c.694_701del9
1 paper
NM_032520.5
p.C245S
c.733T>A
1 paper
NM_032520.5
p.E231G
c.692A>G
1 paper
NM_032520.5
p.C245S
c.734G>C
6 papers
NM_032520.5
p.L230V
c.688C>G
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