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

1–12 of 126 variants

11 papers

NM_015599.3

p.E340del1

c.1018_1019delTTC

10 papers

NM_015599.3

p.L83S

c.248T>C

8 papers

NM_015599.3

p.N246S

c.737A>G

7 papers

NM_015599.3

p.D502Y

c.1504G>T

6 papers

NM_015599.3

p.Q451R

c.1352A>G

5 papers

NM_015599.3

p.D239H

c.715G>C

5 papers

NM_015599.3

p.D466N

c.1396G>A

4 papers

NM_015599.3

p.I322T

c.965T>C

4 papers

NM_015599.3

p.F379L

c.1135T>C

4 papers

NM_015599.3

p.F379L

c.1137T>G

4 papers

NM_015599.3

p.F379L

c.1137T>A

3 papers

NM_015599.3

p.H13R

c.38A>G