Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.R63*

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
7 papers
NM_017739.4
p.R63*
c.187C>T
Surrounding Variants
1 paper
NM_017739.4
p.A64insFs
c.192dupC
2 papers
NM_017739.4
p.E70K
c.208G>A
1 paper
NM_017739.4
p.P72L
c.215C>T
1 paper
NM_017739.4
p.T50_V51delFs
c.150_153del4
1 paper
NM_017739.4
p.P74L
c.221C>T
1 paper
NM_017739.4
p.Q76R
c.227A>G
1 paper
NM_017739.4
p.V44M
c.130G>A
2 papers
NM_017739.4
p.A43A
c.129C>A
1 paper
NM_017739.4
p.Q40_T41Splc
c.121-13C>G
1 paper
NM_017739.4
p.D79Splc
c.236-13T>C
1 paper
NM_017739.4
p.L82V
c.244C>G
1 paper
NM_017739.4
p.R84C
c.250C>T
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