Varaico: Literature-Extracted Genetic Variants

Gene:GNPTG
Variant:p.H150Q

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.H150Q
c.450T>G
Surrounding Variants
1 paper
NM_032520.5
p.H150Q
c.450T>A
2 papers
NM_032520.5
p.A149fs
c.445_446fs
1 paper
NM_032520.5
p.E153K
c.457G>A
2 papers
NM_032520.5
p.E153Q
c.457G>C
10 papers
NM_032520.5
p.A149delFs
c.445delG
1 paper
NM_032520.5
p.P154R
c.461C>G
1 paper
NM_032520.5
p.R147W
c.439C>T
1 paper
NM_032520.5
p.R147delFs
c.441delG
1 paper
NM_032520.5
p.C157S
c.469T>A
1 paper
NM_032520.5
p.C157R
c.469T>C
1 paper
NM_032520.5
p.C157fs
c.469_470fs
1 paper
NM_032520.5
p.C157_V158delFs
c.471_472delCG
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