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

1 paper

NM_000290.4

p.Y142*

c.426C>G

Surrounding Variants

1 paper

NM_000290.4

p.Y142*

c.426C>A

1 paper

NM_000290.4

p.K146R

c.437A>G

1 paper

NM_000290.4

p.K146T

c.437A>C

1 paper

NM_000290.4

p.K138_E139Splc

c.415-1G>A

1 paper

NM_000290.4

p.T152I

c.455C>T

2 papers

NM_000290.4

p.E154K

c.460G>A

1 paper

NM_000290.4

p.I160V

c.478A>G

1 paper

NM_000290.4

p.R162P

c.485G>C

1 paper

NM_000290.4

p.W167C

c.501G>T

1 paper

NM_000290.4

p.W167C

c.501G>C

1 paper

NM_000290.4

p.E169K

c.505G>A

1 paper

NM_000290.4

p.E169_I175delFs

c.507_523del17