Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.L611P

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.L611P
c.1832T>C
Surrounding Variants
1 paper
NM_017739.4
p.L611delFs
c.1832delA
1 paper
NM_017739.4
p.W612fs
c.1834_1835fs
1 paper
NM_017739.4
p.W612insFs
c.1834dupT
1 paper
NM_017739.4
p.W612*
c.1835G>A
1 paper
NM_017739.4
p.G610S
c.1828G>A
1 paper
NM_017739.4
p.R609W
c.1825C>T
1 paper
NM_017739.4
p.H608delFs
c.1823_1824delAT
1 paper
NM_017739.4
p.L614S
c.1841T>C
1 paper
NM_017739.4
p.L614*
c.1841T>A
3 papers
NM_017739.4
p.R605P
c.1814G>C
14 papers
NM_017739.4
p.R605H
c.1814G>A
3 papers
NM_017739.4
p.R605delFs
c.1813delG
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