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

2 papers

NM_000290.4

p.R40Q

c.119G>A

Surrounding Variants

1 paper

NM_000290.4

p.K43N

c.129G>T

1 paper

NM_000290.4

p.K43N

c.129G>C

1 paper

NM_000290.4

p.I45N

c.134T>A

1 paper

NM_000290.4

p.K49R

c.146A>G

1 paper

NM_000290.4

p.D53H

c.157G>C

1 paper

NM_000290.4

p.F26V

c.76T>G

1 paper

NM_000290.4

p.A69T

c.205G>A

1 paper

NM_000290.4

p.A69V

c.206C>T

1 paper

NM_000290.4

p.H11Y

c.31C>T

3 papers

NM_000290.4

p.R10Q

c.29G>A

1 paper

NM_000290.4

p.V7fs

c.19_20fs

1 paper

NM_000290.4

p.V7delFs

c.20delA