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

4 papers

NM_000290.4

p.E89A

c.266A>C

Surrounding Variants

6 papers

NM_000290.4

p.R90W

c.268C>T

1 paper

NM_000290.4

p.W85C

c.255G>T

1 paper

NM_000290.4

p.G93R

c.277G>C

1 paper

NM_000290.4

p.W85C

c.255G>C

1 paper

NM_000290.4

p.G93R

c.277G>A

1 paper

NM_000290.4

p.G93E

c.278G>A

1 paper

NM_000290.4

p.V82M

c.244G>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.L79V

c.235C>G

14 papers

NM_000290.4

p.W78*

c.234G>A

1 paper

NM_000290.4

p.W78S

c.233G>C