Varaico: Literature-Extracted Genetic Variants

Gene:GNPTG
Variant:p.M27K

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.M27K
c.80T>A
Surrounding Variants
6 papers
NM_032520.5
p.A25E
c.74C>A
1 paper
NM_032520.5
p.A25G
c.74C>G
1 paper
NM_032520.5
p.V30delFs
c.88_89delGT
2 papers
NM_032520.5
p.E31D
c.93G>C
2 papers
NM_032520.5
p.E31D
c.93G>T
3 papers
NM_032520.5
p.P33delFs
c.99delC
1 paper
NM_032520.5
p.P21insFs
c.61_62insA
1 paper
NM_032520.5
p.P21insFs
c.61_62insG
1 paper
NM_032520.5
p.P21insFs
c.61_62insT
1 paper
NM_032520.5
p.A35insFs
c.104dupC
1 paper
NM_032520.5
p.G37R
c.109G>A
1 paper
NM_032520.5
p.G37R
c.109G>C
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