Varaico: Literature-Extracted Genetic Variants

Gene:PGM5
Variant:p.A22S

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.A22S
c.64G>T
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