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

1 paper

NM_015599.3

p.A402fs

c.1204_1205fs

Surrounding Variants

1 paper

NM_015599.3

p.K400_A401insFs

c.1198_1202dup5

1 paper

NM_015599.3

p.I409Fs

c.1226delinsATFs

1 paper

NM_015599.3

p.N413K

c.1239C>G

1 paper

NM_015599.3

p.N413K

c.1239C>A

1 paper

NM_015599.3

p.K398_N413del16

c.1192_1238del48

1 paper

NM_015599.3

p.Q414_A415Splc

c.1242+2T>C

5 papers

NM_015599.3

p.F379L

c.1137T>G

NM_001199917.2

p.F407L

c.1221T>G

5 papers

NM_015599.3

p.F379L

c.1137T>A

NM_001199917.2

p.F407L

c.1221T>A

5 papers

NM_015599.3

p.F379L

c.1135T>C

NM_001199917.2

p.F407L

c.1219T>C

1 paper

NM_001199918.2

p.T295P

c.883A>C

1 paper

NM_015599.3

p.G375delFs

c.1124delC

1 paper

NM_015599.3

p.I365T

c.1094T>C