Varaico: Literature-Extracted Genetic Variants

Gene:GNPTG
Variant:p.T286insFs

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.T286insFs
c.857dupC
Surrounding Variants
7 papers
NM_032520.5
p.T286M
c.857C>T
1 paper
NM_032520.5
p.P287_S291delFs
c.860_873del14
1 paper
NM_032520.5
p.H284delFs
c.850delC
1 paper
NM_032520.5
p.G283_H284insC
c.847_851ins3
1 paper
NM_032520.5
p.K290R
c.869A>G
1 paper
NM_032520.5
p.S291_P292insC
c.871_875ins3
1 paper
NM_032520.5
p.E293insFs
c.879dupG
1 paper
NM_032520.5
p.S277delFs
c.831delC
1 paper
NM_032520.5
p.G297insFs
c.890dupG
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
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