Varaico: Literature-Extracted Genetic Variants

PGM1

192 papers

RefSeq Summary

The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and cata...

Pfam Domains

PGM_PMM_Iaa 14–158UCSCPhosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain I

PGM_PMM_IIaa 193–301UCSCPhosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain II

PGM_PMM_IIIaa 306–420UCSCPhosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain III

PGM1_C_vert_fungaa 422–559UCSCPhosphoglucomutase-1, C-terminal domain

Gene Aliases

HGNC Name

phosphoglucomutase 1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 517 variants

19 papers

NM_002633.3

p.G330R

c.988G>C

18 papers

NM_002633.3

p.D263Y

c.787G>T

17 papers

NM_002633.3

p.R221C

c.661C>T

17 papers

NM_002633.3

p.G291R

c.871G>A

17 papers

NM_002633.3

p.Y420H

c.1258T>C

17 papers

NM_002633.3

p.R503Q

c.1508G>A

16 papers

NM_002633.3

p.L516P

c.1547T>C

15 papers

NM_002633.3

p.N38Y

c.112A>T

15 papers

NM_002633.3

p.T115A

c.343A>G

15 papers

NM_002633.3

p.G121R

c.361G>C

15 papers

NM_002633.3

p.G291R

c.871G>C

15 papers

NM_002633.3

p.E388K

c.1162G>A