Varaico: Literature-Extracted Genetic Variants

Gene:GNPTG
Variant:p.K207insFs

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
4 papers
NM_032520.5
p.K207insFs
c.619_620insT
Surrounding Variants
1 paper
NM_032520.5
p.K207fs
c.619_620fs
1 paper
NM_032520.5
p.E206_K207delFs
c.618_619delGA
1 paper
NM_032520.5
p.E206_K207delFs
c.616_619del4
1 paper
NM_032520.5
p.L209_R210delFs
c.625_629del5
1 paper
NM_032520.5
p.H205P
c.614A>C
1 paper
NM_032520.5
p.H205Y
c.613C>T
1 paper
NM_032520.5
p.G204V
c.611G>T
1 paper
NM_032520.5
p.G204fs
c.610_611fs
5 papers
NM_032520.5
p.Q203_G204Splc
c.610-1G>T
4 papers
NM_032520.5
p.Q203_G204Splc
c.610-2A>G
4 papers
NM_032520.5
p.G204delFs
c.611delG
4 papers
NM_032520.5
p.F213delFs
c.639delT
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."