Varaico: Literature-Extracted Genetic Variants

Gene:PGM2
Variant:p.K403R

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.K403R
c.1208A>G
Surrounding Variants
1 paper
NM_018290.4
p.F402Y
c.1205T>A
1 paper
NM_018290.4
p.G406E
c.1217G>A
1 paper
NM_018290.4
p.F421L
c.1261T>C
1 paper
NM_018290.4
p.F421L
c.1263T>A
1 paper
NM_018290.4
p.F421L
c.1263T>G
1 paper
NM_018290.4
p.G428*
c.1282G>T
1 paper
NM_018290.4
p.E396K
c.1186G>A
1 paper
NM_018290.4
p.S358S
c.1074T>A
2 papers
NM_018290.4
p.N345S
c.1034A>G
1 paper
NM_018290.4
p.M430I
c.1290G>A
1 paper
NM_018290.4
p.M430I
c.1290G>C
1 paper
NM_018290.4
p.M430I
c.1290G>T
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