Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.K178_D179Splc

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.K178_D179Splc
c.535-3C>G
Surrounding Variants
3 papers
NM_017739.4
p.D179fs
c.535_536fs
1 paper
NM_017739.4
p.D179A
c.536A>C
1 paper
NM_017739.4
p.D179fs
c.535_536fs
3 papers
NM_017739.4
p.H184Y
c.550C>T
1 paper
NM_017739.4
p.F183delFs
c.549delG
2 papers
NM_017739.4
p.L192P
c.575T>C
1 paper
NM_017739.4
p.G197R
c.589G>C
4 papers
NM_017739.4
p.S198R
c.592A>C
5 papers
NM_017739.4
p.S198R
c.594C>G
5 papers
NM_017739.4
p.S198R
c.594C>A
1 paper
NM_017739.4
p.S198delFs
c.593delC
1 paper
NM_017739.4
p.Q199*
c.595C>T
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