Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.P293_L294Splc

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
2 papers
NM_017739.4
p.P293_L294Splc
c.879+5G>T
Surrounding Variants
1 paper
NM_017739.4
p.P293_L294Splc
c.879+5G>A
2 papers
NM_017739.4
p.P293_L294Splc
c.879+1G>A
1 paper
NM_017739.4
p.P293fs
c.877_878fs
1 paper
NM_017739.4
p.P293L
c.878C>T
1 paper
NM_017739.4
p.P293_L294ins7
c.877_881ins21
1 paper
NM_017739.4
p.P291S
c.871C>T
1 paper
NM_017739.4
p.S290N
c.869G>A
6 papers
NM_017739.4
p.I287S
c.860T>G
1 paper
NM_017739.4
p.Y275insFs
c.823dupT
1 paper
NM_017739.4
p.G274_Y275insFs
c.822_823dupCT
1 paper
NM_017739.4
p.C269del1
c.805_806delGCA
8 papers
NM_017739.4
p.C269Y
c.806G>A
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