Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.L82V

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.L82V
c.244C>G
Surrounding Variants
1 paper
NM_017739.4
p.R84C
c.250C>T
1 paper
NM_017739.4
p.R84G
c.250C>G
1 paper
NM_017739.4
p.D79Splc
c.236-13T>C
1 paper
NM_017739.4
p.G94fs
c.280_281fs
1 paper
NM_017739.4
p.V98I
c.292G>A
5 papers
NM_017739.4
p.L99P
c.296T>C
5 papers
NM_017739.4
p.V101I
c.301G>A
3 papers
NM_017739.4
p.E102*
c.304G>T
1 paper
NM_017739.4
p.V103fs
c.307_308fs
1 paper
NM_017739.4
p.Y104C
c.311A>G
1 paper
NM_017739.4
p.R107C
c.319C>T
1 paper
NM_017739.4
p.V110V
c.330A>G
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