Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.S226Y

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.S226Y
c.677C>A
Surrounding Variants
1 paper
NM_017739.4
p.S226F
c.677C>T
1 paper
NM_017739.4
p.H225P
c.674A>C
1 paper
NM_017739.4
p.K227K
c.681A>G
1 paper
NM_017739.4
p.E223delFs
c.667delC
10 papers
NM_017739.4
p.E223K
c.667G>A
1 paper
NM_017739.4
p.S232fs
c.694_695fs
1 paper
NM_017739.4
p.L231_S232insFs
c.693_694ins4
1 paper
NM_017739.4
p.S232delFs
c.695_696delAG
1 paper
NM_017739.4
p.W234*
c.701G>A
1 paper
NM_017739.4
p.W234*
c.702G>A
2 papers
NM_017739.4
p.G235R
c.703G>C
1 paper
NM_017739.4
p.G235R
c.703G>A
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