Varaico: Literature-Extracted Genetic Variants

Gene:GNPTG
Variant:p.T78Splc

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
5 papers
NM_032520.5
p.T78Splc
c.234-1G>C
Surrounding Variants
1 paper
NM_032520.5
p.Y79fs
c.235_236fs
1 paper
NM_032520.5
p.Y79*
c.237C>A
1 paper
NM_032520.5
p.Y79*
c.237C>G
5 papers
NM_032520.5
p.K80_Y81del0
c.238_243del6
2 papers
NM_032520.5
p.Y81N
c.241T>A
7 papers
NM_032520.5
p.E82_F83insFs
c.244_247dup4
2 papers
NM_032520.5
p.Y81*
c.243T>A
2 papers
NM_032520.5
p.Y81*
c.243T>G
1 paper
NM_032520.5
p.E82delFs
c.244delG
1 paper
NM_032520.5
p.C84S
c.250T>A
1 paper
NM_032520.5
p.C84insFs
c.251dupG
1 paper
NM_032520.5
p.C84S
c.251G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."