Varaico: Literature-Extracted Genetic Variants

PGM5

39 papers

RefSeq Summary

Phosphoglucomutases (EC 5.2.2.2.), such as PGM5, are phosphotransferases involved in interconversion of glucose-1-phosphate and glucose-6-phosphate. PGM activity is essential in formation of carbohydr...

Pfam Domains

PGM_PMM_Iaa 19–163UCSCPhosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain I

PGM_PMM_IIaa 198–306UCSCPhosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain II

PGM_PMM_IIIaa 311–425UCSCPhosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain III

PGM1_C_vert_fungaa 427–564UCSCPhosphoglucomutase-1, C-terminal domain

Gene Aliases

HGNC Name

phosphoglucomutase 5

HGNC Alias Symbol

PGMRP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021965.4

p.H469Y

c.1405C>T

Surrounding Variants

3 papers

NM_021965.4

p.T476M

c.1427C>T

1 paper

NM_021965.4

p.G461V

c.1382G>T

1 paper

NM_021965.4

p.Y481C

c.1442A>G

1 paper

NM_021965.4

p.K491E

c.1471A>G

1 paper

NM_021965.4

p.T442M

c.1325C>T

1 paper

NM_021965.4

p.D420N

c.1258G>A

1 paper

NM_021965.4

p.E416K

c.1246G>A