Varaico: Literature-Extracted Genetic Variants

Gene:GNPTG
Variant:p.G126D

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
2 papers
NM_032520.5
p.G126D
c.377G>A
Surrounding Variants
2 papers
NM_032520.5
p.D127_S131delFs
c.379_391del13
4 papers
NM_032520.5
p.G126S
c.376G>A
2 papers
NM_032520.5
p.G126R
c.376G>C
1 paper
NM_032520.5
p.G126_D127delFs
c.376_379del4
1 paper
NM_032520.5
p.D127Y
c.379G>T
1 paper
NM_032520.5
p.D127fs
c.379_380fs
1 paper
NM_032520.5
p.D125N
c.373G>A
3 papers
NM_032520.5
p.M123V
c.367A>G
1 paper
NM_032520.5
p.R130C
c.388C>T
1 paper
NM_032520.5
p.W122C
c.366G>C
1 paper
NM_032520.5
p.W122C
c.366G>T
1 paper
NM_032520.5
p.R130H
c.389G>A
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