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

3 papers

NM_015599.3

p.H13R

c.38A>G

Surrounding Variants

1 paper

NM_015599.3

p.H13H

c.39C>T

1 paper

NM_015599.3

p.H13Y

c.37C>T

1 paper

NM_015599.3

p.L21F

c.61C>T

1 paper

NM_001199917.2

p.G52W

c.154G>T

1 paper

NM_015599.3

p.M1delFs

c.2delA

1 paper

NM_015599.3

p.R29P

c.86G>C

1 paper

NM_015599.3

p.E33Q

c.97G>C

1 paper

NM_015599.3

p.V38I

c.112G>A

3 papers

NM_015599.3

p.R49T

c.146G>C

1 paper

NM_015599.3

p.T62I

c.185C>T

1 paper

NM_015599.3

p.H65Q

c.195C>G

1 paper

NM_015599.3

p.P67A

c.199C>G