Varaico: Literature-Extracted Genetic Variants

Gene:PGM2
Variant:p.G115G

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
Selected Variant
1 paper
NM_018290.4
p.G115G
c.345T>C
Surrounding Variants
1 paper
NM_018290.4
p.G114A
c.341G>C
1 paper
NM_018290.4
p.H110L
c.329A>T
1 paper
NM_018290.4
p.G84R
c.250G>A
1 paper
NM_018290.4
p.V135M
c.403G>A
1 paper
NM_018290.4
p.S71F
c.212C>T
1 paper
NM_018290.4
p.R54Q
c.161G>A
1 paper
NM_018290.4
p.I39M
c.117A>G
1 paper
NM_018290.4
p.V147_P148Splc
c.442-201A>G
1 paper
NM_018290.4
p.S165A
c.493T>G
1 paper
NM_018290.4
p.K175_V176Splc
c.525+1G>T
1 paper
NM_018290.4
p.H188R
c.563A>G
1 paper
NM_018290.4
p.D189N
c.565G>A
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