Varaico: Literature-Extracted Genetic Variants

Gene:GNPTG
Variant:p.G297insFs

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.G297insFs
c.890dupG
Surrounding Variants
1 paper
NM_032520.5
p.R296W
c.886C>T
1 paper
NM_032520.5
p.R296delFs
c.887delG
2 papers
NM_032520.5
p.R296Q
c.887G>A
1 paper
NM_032520.5
p.G297fs
c.889_890fs
1 paper
NM_032520.5
p.G297insFs
c.890_891insT
1 paper
NM_032520.5
p.E293insFs
c.879dupG
1 paper
NM_032520.5
p.P299S
c.895C>T
1 paper
NM_032520.5
p.S291_P292insC
c.871_875ins3
1 paper
NM_032520.5
p.K290R
c.869A>G
1 paper
NM_032520.5
p.R302H
c.905G>A
1 paper
NM_032520.5
p.L305insFs
c.914dupT
1 paper
NM_032520.5
p.P287_S291delFs
c.860_873del14
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