Varaico: Literature-Extracted Genetic Variants

PGAM2

88 papers

RefSeq Summary

Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in diff...

Pfam Domains

His_Phos_1aa 6–138UCSCHistidine phosphatase superfamily (branch 1)

His_Phos_1aa 126–224UCSCHistidine phosphatase superfamily (branch 1)

Gene Aliases

HGNC Name

phosphoglycerate mutase 2

HGNC Alias Symbol

PGAM-M

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000290.4

p.I114S

c.341T>G

Surrounding Variants

1 paper

NM_000290.4

p.S118A

c.352T>G

1 paper

NM_000290.4

p.S118C

c.353C>G

1 paper

NM_000290.4

p.I121T

c.362T>C

1 paper

NM_000290.4

p.P122L

c.365C>T

1 paper

NM_000290.4

p.A104V

c.311C>T

1 paper

NM_000290.4

p.A104T

c.310G>A

1 paper

NM_000290.4

p.R116_P125delFs

c.348_373del26

1 paper

NM_000290.4

p.P125P

c.375G>A

1 paper

NM_000290.4

p.E128K

c.382G>A

1 paper

NM_000290.4

p.G97A

c.290G>C

9 papers

NM_000290.4

p.G97D

c.290G>A

1 paper

NM_000290.4

p.G93E

c.278G>A