Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.V390G

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.V390G
c.1169T>G
Surrounding Variants
1 paper
NM_017739.4
p.L382Q
c.1145T>A
1 paper
NM_017739.4
p.Y372C
c.1115A>G
1 paper
NM_017739.4
p.Q370_H371Splc
c.1111-1G>A
1 paper
NM_017739.4
p.Q370_H371Splc
c.1111-23C>T
1 paper
NM_017739.4
p.L406delFs
c.1216delG
1 paper
NM_017739.4
p.Q370_H371Splc
c.1110+1G>A
4 papers
NM_017739.4
p.S369insFs
c.1106_1107insT
1 paper
NM_017739.4
p.V368M
c.1102G>A
7 papers
NM_017739.4
p.R367H
c.1100G>A
1 paper
NM_017739.4
p.R367C
c.1099C>T
1 paper
NM_017739.4
p.G355_K364delFs
c.1064_1091del28
3 papers
NM_017739.4
p.T359_P360insFs
c.1077_1078insG
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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."