Varaico: Literature-Extracted Genetic Variants

PGAM1

49 papers

RefSeq Summary

The protein encoded by this gene is a mutase that catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. Two transcript variants encod...

Pfam Domains

His_Phos_1aa 6–138UCSCHistidine phosphatase superfamily (branch 1)

His_Phos_1aa 134–228UCSCHistidine phosphatase superfamily (branch 1)

Gene Aliases

HGNC Name

phosphoglycerate mutase 1

HGNC Previous Symbol

PGAMA

Papers

RefSeq ID

Protein change

DNA change

1–12 of 32 variants

4 papers

NM_002629.4

p.Y92F

c.275A>T

3 papers

NM_002629.4

p.H186R

c.557A>G

2 papers

NM_002629.4

p.Y26F

c.77A>T

1 paper

NM_002629.4

p.K5R

c.14A>G

1 paper

NM_002629.4

p.I9V

c.25A>G

1 paper

NM_002629.4

p.R10Q

c.29G>A

1 paper

NM_002629.4

p.H11R

c.32A>G

1 paper

NM_002629.4

p.G12C

c.34G>T

1 paper

NM_002629.4

p.G12D

c.35G>A

1 paper

NM_002629.4

p.G12V

c.35G>T

1 paper

NM_002629.4

p.Q60R

c.179A>G

1 paper

NM_002629.4

p.R62K

c.185G>A