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

4 papers

NM_015599.3

p.N246fs

c.736_737fs

NM_001199917.2

p.N274fs

c.820_821fs

Surrounding Variants

10 papers

NM_015599.3

p.N246S

c.737A>G

NM_001199917.2

p.N274S

c.821A>G

3 papers

NM_015599.3

p.N246insFs

c.737dupA

NM_001199917.2

p.N274insFs

c.821dupA

2 papers

NM_015599.3

p.N246K

c.738T>G

2 papers

NM_015599.3

p.N246K

c.738T>A

1 paper

NM_015599.3

p.G250E

c.749G>A

1 paper

NM_015599.3

p.A251G

c.752C>G

5 papers

NM_015599.3

p.D239H

c.715G>C

1 paper

NM_001199917.2

p.V282A

c.845T>C

1 paper

NM_001199917.2

p.G291Splc

c.871+3A>G

1 paper

NM_015599.3

p.D211H

c.631G>C

1 paper

NM_015599.3

p.K209R

c.626A>G

1 paper

NM_015599.3

p.S207*

c.620C>G