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

2 papers

NM_015599.3

p.M423T

c.1268T>C

Surrounding Variants

1 paper

NM_001199917.2

p.Q466R

c.1397A>G

7 papers

NM_015599.3

p.Q451R

c.1352A>G

NM_001199917.2

p.Q479R

c.1436A>G

2 papers

NM_015599.3

p.L452fs

c.1354_1355fs

NM_001199917.2

p.L480fs

c.1438_1439fs

2 papers

NM_001199917.2

p.L480fs

c.1438_1439fs

NM_015599.3

p.L452fs

c.1354_1355fs

2 papers

NM_015599.3

p.L452_K453delFs

c.1354_1358del5

NM_001199917.2

p.L480_K481delFs

c.1438_1442del5

1 paper

NM_015599.3

p.A457T

c.1369G>A

1 paper

NM_015599.3

p.T464S

c.1390A>T

3 papers

NM_015599.3

p.T464I

c.1391C>T

1 paper

NM_015599.3

p.T464S

c.1391C>G

5 papers

NM_015599.3

p.D466N

c.1396G>A

1 paper

NM_015599.3

p.A467T

c.1399G>A

3 papers

NM_015599.3

p.Q478*

c.1432C>T