Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.G505S

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.G505S
c.1513G>A
Surrounding Variants
1 paper
NM_017739.4
p.S498_L506del9
c.1492_1517del27
2 papers
NM_017739.4
p.G502A
c.1505G>C
1 paper
NM_017739.4
p.G502fs
c.1504_1505fs
1 paper
NM_017739.4
p.N509H
c.1525A>C
1 paper
NM_017739.4
p.Y511H
c.1531T>C
1 paper
NM_017739.4
p.Y511C
c.1532A>G
1 paper
NM_017739.4
p.R497P
c.1490G>C
1 paper
NM_017739.4
p.R497Q
c.1490G>A
1 paper
NM_017739.4
p.R497*
c.1489C>T
1 paper
NM_017739.4
p.R497G
c.1489C>G
4 papers
NM_017739.4
p.H513_E514Splc
c.1539+1G>T
28 papers
NM_017739.4
p.H513_E514Splc
c.1539+1G>A
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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."