Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.R265H

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
12 papers
NM_017739.4
p.R265H
c.794G>A
Surrounding Variants
2 papers
NM_017739.4
p.R265P
c.794G>C
1 paper
NM_017739.4
p.R266fs
c.796_797fs
4 papers
NM_017739.4
p.R266W
c.796C>T
1 paper
NM_017739.4
p.R264H
c.791G>A
1 paper
NM_017739.4
p.L261L
c.783G>A
8 papers
NM_017739.4
p.C269Y
c.806G>A
1 paper
NM_017739.4
p.C269del1
c.805_806delGCA
1 paper
NM_017739.4
p.A257T
c.769G>A
1 paper
NM_017739.4
p.W256C
c.768G>T
1 paper
NM_017739.4
p.W256R
c.766T>C
1 paper
NM_017739.4
p.W256R
c.766T>A
1 paper
NM_017739.4
p.Y275insFs
c.823dupT
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