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

1–12 of 30 variants

8 papers

NM_021965.4

p.I98V

c.292A>G

3 papers

NM_021965.4

p.T476M

c.1427C>T

2 papers

NM_021965.4

p.S100L

c.299C>T

1 paper

NM_021965.4

p.A22S

c.64G>T

1 paper

NM_021965.4

p.R90*

c.268C>T

1 paper

NM_021965.4

p.T101K

c.302C>A

1 paper

NM_021965.4

p.Y162N

c.484T>A

1 paper

NM_021965.4

p.L203I

c.607C>A

1 paper

NM_021965.4

p.I207L

c.619A>C

1 paper

NM_021965.4

p.R226C

c.676C>T

1 paper

NM_021965.4

p.I227T

c.680T>C

1 paper

NM_021965.4

p.A253T

c.757G>A