Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.G327R

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.G327R
c.979G>A
Surrounding Variants
1 paper
NM_017739.4
p.V328insFs
c.983_984insG
1 paper
NM_017739.4
p.Q331*
c.991C>T
1 paper
NM_017739.4
p.T334I
c.1001C>T
1 paper
NM_017739.4
p.M318K
c.953T>A
1 paper
NM_017739.4
p.I337T
c.1010T>C
4 papers
NM_017739.4
p.I337insFs
c.1011dupT
1 paper
NM_017739.4
p.G339D
c.1016G>A
1 paper
NM_017739.4
p.E342_E343Splc
c.1026+1G>A
1 paper
NM_017739.4
p.L315M
c.943C>A
2 papers
NM_017739.4
p.P312L
c.935C>T
1 paper
NM_017739.4
p.P312S
c.934C>T
10 papers
NM_017739.4
p.R311Q
c.932G>A
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