Varaico: Literature-Extracted Genetic Variants

Gene:GNPTG
Variant:p.N115delFs

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.N115delFs
c.344_345delAC
Surrounding Variants
1 paper
NM_032520.5
p.N115S
c.344A>G
12 papers
NM_032520.5
p.N116del1
c.346_347delAAC
1 paper
NM_032520.5
p.N116T
c.347A>C
1 paper
NM_032520.5
p.I113M
c.339C>G
4 papers
NM_032520.5
p.W111*
c.333G>A
4 papers
NM_032520.5
p.W111*
c.332G>A
2 papers
NM_032520.5
p.W111R
c.331T>A
2 papers
NM_032520.5
p.W111R
c.331T>C
8 papers
NM_032520.5
p.E110*
c.328G>T
1 paper
NM_032520.5
p.W108*
c.324G>A
2 papers
NM_032520.5
p.W108*
c.323G>A
1 paper
NM_032520.5
p.W122C
c.366G>C
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