Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.R497Q

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.R497Q
c.1490G>A
Surrounding Variants
1 paper
NM_017739.4
p.R497P
c.1490G>C
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.P493R
c.1478C>G
1 paper
NM_017739.4
p.G502fs
c.1504_1505fs
2 papers
NM_017739.4
p.G502A
c.1505G>C
9 papers
NM_017739.4
p.C490Y
c.1469G>A
1 paper
NM_017739.4
p.E489insFs
c.1467dupG
1 paper
NM_017739.4
p.C490R
c.1468T>C
2 papers
NM_017739.4
p.G505S
c.1513G>A
2 papers
NM_017739.4
p.R488Q
c.1463G>A
2 papers
NM_017739.4
p.R488*
c.1462C>T
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