Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.S550N

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
7 papers
NM_017739.4
p.S550N
c.1649G>A
Surrounding Variants
15 papers
NM_017739.4
p.D556N
c.1666G>A
1 paper
NM_017739.4
p.F566S
c.1697T>C
1 paper
NM_017739.4
p.D569V
c.1706A>T
1 paper
NM_017739.4
p.H573delFs
c.1719delG
4 papers
NM_017739.4
p.R580*
c.1738C>T
4 papers
NM_017739.4
p.M581I
c.1743G>A
6 papers
NM_017739.4
p.W590*
c.1769G>A
6 papers
NM_017739.4
p.W590*
c.1770G>A
1 paper
NM_017739.4
p.K595_C596Splc
c.1785+1G>A
2 papers
NM_017739.4
p.K595_C596Splc
c.1785+2T>G
1 paper
NM_017739.4
p.R605S
c.1813C>A
3 papers
NM_017739.4
p.R605P
c.1814G>C
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