Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.M623V

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
13 papers
NM_017739.4
p.M623V
c.1867A>G
NM_001290129.2
p.M601V
c.1801A>G
Surrounding Variants
1 paper
NM_017739.4
p.F621delFs
c.1863delG
1 paper
NM_017739.4
p.F621V
c.1861T>G
1 paper
NM_017739.4
p.G625R
c.1873G>C
1 paper
NM_017739.4
p.G625R
c.1873G>A
1 paper
NM_017739.4
p.R613_N619del7
c.1837_1856del21
1 paper
NM_017739.4
p.V626delFs
c.1876delC
1 paper
NM_017739.4
p.K617Fs
c.1850delinsCAFs
1 paper
NM_017739.4
p.L614S
c.1841T>C
1 paper
NM_017739.4
p.L614*
c.1841T>A
6 papers
NM_017739.4
p.S632Splc
c.1895+1G>T
2 papers
NM_017739.4
p.S632Splc
c.1895+1G>A
1 paper
NM_017739.4
p.W612insFs
c.1834dupT
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