Varaico: Literature-Extracted Genetic Variants

PGM3

94 papers

RefSeq Summary

This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose...

Pfam Domains

PGM_PMM_Iaa 19–99UCSCPhosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain I

PGM_PMM_Iaa 44–102UCSCPhosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain I

AMG1_IIaa 175–283UCSCPhosphoacetylglucosamine mutase AMG1, domain II

AMG1_IIIaa 216–354UCSCPhosphoacetylglucosamine mutase AMG1, domain III

PGM_PMM_IVaa 371–437UCSCPhosphoglucomutase/phosphomannomutase, C-terminal domain

Gene Aliases

HGNC Name

phosphoglucomutase 3

HGNC Alias Symbols

AGM1; DKFZP434B187; PAGM

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_015599.3

p.L83S

c.248T>C

Surrounding Variants

1 paper

NM_015599.3

p.G80insFs

c.238_239insG

1 paper

NM_015599.3

p.S86A

c.256T>G

2 papers

NM_015599.3

p.G72S

c.214G>A

1 paper

NM_015599.3

p.I107V

c.319A>G

1 paper

NM_015599.3

p.D108fs

c.322_323fs

1 paper

NM_015599.3

p.D108insFs

c.322_323ins5

1 paper

NM_015599.3

p.Q118R

c.353A>G

1 paper

NM_001199917.2

p.R155delFs

c.463delT

1 paper

NM_001199917.2

p.R155fs

c.463_464fs

1 paper

NM_015599.3

p.S133fs

c.397_398fs

1 paper

NM_015599.3

p.K135*

c.403A>T

1 paper

NM_015599.3

p.S133_Q138delFs

c.398_413del16