Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.F212insFs

POMGNT1

301 papers

RefSeq Summary

This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this ...

Pfam Domains

ILEIaa 129–218UCSCInterleukin-like EMT inducer
GNT-Iaa 293–610UCSCGNT-I family

Gene Aliases

HGNC Name

protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

HGNC Previous Symbol

MEB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017739.4
p.F212insFs
c.635_636insGC
Surrounding Variants
13 papers
NM_017739.4
p.F212F
c.636C>T
2 papers
NM_017739.4
p.W210C
c.630G>T
2 papers
NM_017739.4
p.W210C
c.630G>C
1 paper
NM_017739.4
p.W210L
c.629G>T
5 papers
NM_017739.4
p.R215*
c.643C>T
1 paper
NM_017739.4
p.G205_R207delFs
c.613_619del7
2 papers
NM_017739.4
p.W206*
c.618G>A
2 papers
NM_017739.4
p.G218Splc
c.652+1G>A
2 papers
NM_017739.4
p.W206*
c.617G>A
1 paper
NM_017739.4
p.A200_L204del0
c.598_612del15
1 paper
NM_017739.4
p.G218Splc
c.652+5C>T
1 paper
NM_017739.4
p.G201D
c.602G>A
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