Varaico: Literature-Extracted Genetic Variants

Gene:GNPTG
Variant:p.A160T

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.A160T
c.478G>A
Surrounding Variants
1 paper
NM_032520.5
p.A160fs
c.478_479fs
1 paper
NM_032520.5
p.A160fs
c.478_479fs
1 paper
NM_032520.5
p.Y159*
c.477C>A
1 paper
NM_032520.5
p.A160insFs
c.478_479ins4
1 paper
NM_032520.5
p.Y159*
c.477C>G
1 paper
NM_032520.5
p.A160V
c.479C>T
2 papers
NM_032520.5
p.V158I
c.472G>A
1 paper
NM_032520.5
p.C157*
c.471C>A
1 paper
NM_032520.5
p.C157S
c.470G>C
4 papers
NM_032520.5
p.C157delFs
c.471delC
1 paper
NM_032520.5
p.C157S
c.469T>A
1 paper
NM_032520.5
p.C157R
c.469T>C
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