Varaico: Literature-Extracted Genetic Variants

Gene:GNPTG
Variant:p.C169S

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.C169S
c.506G>C
Surrounding Variants
1 paper
NM_032520.5
p.C169S
c.505T>A
2 papers
NM_032520.5
p.H172insFs
c.514dupC
1 paper
NM_032520.5
p.H172delFs
c.514delC
3 papers
NM_032520.5
p.V168I
c.502G>A
2 papers
NM_032520.5
p.V168fs
c.502_503fs
1 paper
NM_032520.5
p.L167P
c.500T>C
5 papers
NM_032520.5
p.L167insFs
c.500_501insC
1 paper
NM_032520.5
p.L167fs
c.499_500fs
5 papers
NM_032520.5
p.L167fs
c.499_500fs
3 papers
NM_032520.5
p.H172fs
c.514_515fs
1 paper
NM_032520.5
p.H172insFs
c.516dupC
1 paper
NM_032520.5
p.H172delFs
c.516delC
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