Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.Q428_G429Splc

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
3 papers
NM_017739.4
p.Q428_G429Splc
c.1285-2A>G
Surrounding Variants
1 paper
NM_017739.4
p.G429V
c.1286G>T
1 paper
NM_017739.4
p.A434V
c.1301C>T
1 paper
NM_017739.4
p.P437S
c.1309C>T
1 paper
NM_017739.4
p.P437P
c.1311A>G
1 paper
NM_017739.4
p.L439Q
c.1316T>A
3 papers
NM_017739.4
p.L440R
c.1319T>G
6 papers
NM_017739.4
p.R442C
c.1324C>T
1 paper
NM_017739.4
p.R442S
c.1324C>A
2 papers
NM_017739.4
p.R442L
c.1325G>T
8 papers
NM_017739.4
p.R442H
c.1325G>A
1 paper
NM_017739.4
p.V443M
c.1327G>A
1 paper
NM_017739.4
p.E444G
c.1331A>G
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