Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.P303S

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.P303S
c.907C>T
Surrounding Variants
1 paper
NM_017739.4
p.P303L
c.908C>T
1 paper
NM_017739.4
p.L294_V299delFs
c.881_897del17
1 paper
NM_017739.4
p.N310S
c.929A>G
5 papers
NM_017739.4
p.R311*
c.931C>T
10 papers
NM_017739.4
p.R311Q
c.932G>A
1 paper
NM_017739.4
p.L294L
c.882C>G
1 paper
NM_017739.4
p.P312S
c.934C>T
1 paper
NM_017739.4
p.P293_L294Splc
c.880-1G>C
2 papers
NM_017739.4
p.P312L
c.935C>T
1 paper
NM_017739.4
p.L315M
c.943C>A
1 paper
NM_017739.4
p.M318K
c.953T>A
1 paper
NM_017739.4
p.G327R
c.979G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."