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

11 papers

NM_015599.3

p.E340del1

c.1018_1019delTTC

Surrounding Variants

2 papers

NM_015599.3

p.R336W

c.1006C>T

2 papers

NM_015599.3

p.T335A

c.1003A>G

1 paper

NM_015599.3

p.A328T

c.982G>A

4 papers

NM_015599.3

p.I322T

c.965T>C

1 paper

NM_015599.3

p.I322_G323ins5

c.964_968ins15

1 paper

NM_015599.3

p.E315G

c.944A>G

4 papers

NM_015599.3

p.D297E

c.891T>G

NM_001199917.2

p.D325E

c.975T>G

4 papers

NM_015599.3

p.D297E

c.891T>A

NM_001199917.2

p.D325E

c.975T>A

3 papers

NM_015599.3

p.G291R

c.871G>C

2 papers

NM_015599.3

p.I282T

c.845T>C

1 paper

NM_015599.3

p.E362V

c.1085A>T

1 paper

NM_015599.3

p.I365T

c.1094T>C