Varaico: Literature-Extracted Genetic Variants

Gene:GNPTG
Variant:p.Q203insFs

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
2 papers
NM_032520.5
p.Q203insFs
c.608_609insC
Surrounding Variants
1 paper
NM_032520.5
p.Q203fs
c.607_608fs
1 paper
NM_032520.5
p.Q203*
c.607C>T
2 papers
NM_032520.5
p.Q203fs
c.607_608fs
1 paper
NM_032520.5
p.Q203H
c.609G>C
1 paper
NM_032520.5
p.Q203H
c.609G>T
3 papers
NM_032520.5
p.Q203_G204Splc
c.609+1G>C
1 paper
NM_032520.5
p.Q203_G204Splc
c.609+1G>T
1 paper
NM_032520.5
p.P202A
c.604C>G
4 papers
NM_032520.5
p.Q203insFs
c.607dupC
1 paper
NM_032520.5
p.T201A
c.601A>G
1 paper
NM_032520.5
p.Q203delFs
c.607delC
1 paper
NM_032520.5
p.Q193Fs
c.577delinsACFs
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