Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.R238H

PMM2

623 papers

RefSeq Summary

The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharid...

Pfam Domains

PMMaa 28–246UCSCEukaryotic phosphomannomutase

Gene Aliases

HGNC Name

phosphomannomutase 2

HGNC Previous Symbol

CDG1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_000303.3
p.R238H
c.713G>A
Surrounding Variants
14 papers
NM_000303.3
p.R238P
c.713G>C
6 papers
NM_000303.3
p.R238G
c.712C>G
1 paper
NM_000303.3
p.R238C
c.712C>T
11 papers
NM_000303.3
p.R239W
c.715A>T
4 papers
NM_000303.3
p.T237K
c.710C>A
60 papers
NM_000303.3
p.T237R
c.710C>G
79 papers
NM_000303.3
p.T237M
c.710C>T
2 papers
NM_000303.3
p.R239S
c.717G>C
2 papers
NM_000303.3
p.R239S
c.717G>T
1 paper
NM_000303.3
p.D236E
c.708C>A
1 paper
NM_000303.3
p.D236E
c.708C>G
2 papers
NM_000303.3
p.D236G
c.707A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."