Varaico: Literature-Extracted Genetic Variants

Gene:PGM2

PGM2

52 papers

Pfam Domains

PGM_PMM_Iaa 54–203UCSCPhosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain I
PGM_PMM_IIaa 227–336UCSCPhosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain II
PGM_PMM_IIIaa 343–472UCSCPhosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain III

Gene Aliases

HGNC Name

phosphoglucomutase 2

HGNC Alias Symbol

FLJ10983

Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
2 papers
NM_018290.4
p.T19A
c.55A>G
2 papers
NM_018290.4
p.A329T
c.985G>A
2 papers
NM_018290.4
p.N345S
c.1034A>G
1 paper
NM_018290.4
p.A2V
c.5C>T
1 paper
NM_018290.4
p.I39M
c.117A>G
1 paper
NM_018290.4
p.R54Q
c.161G>A
1 paper
NM_018290.4
p.S71F
c.212C>T
1 paper
NM_018290.4
p.G84R
c.250G>A
1 paper
NM_018290.4
p.H110L
c.329A>T
1 paper
NM_018290.4
p.G114A
c.341G>C
1 paper
NM_018290.4
p.G115G
c.345T>C
1 paper
NM_018290.4
p.V135M
c.403G>A
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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."