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

Selected Variant

3 papers

NM_002629.4

p.H186R

c.557A>G

Surrounding Variants

1 paper

NM_002629.4

p.G178fs

c.532_533fs

1 paper

NM_002629.4

p.E198E

c.594G>A

1 paper

NM_002629.4

p.Y133F

c.398A>T

1 paper

NM_002629.4

p.D129G

c.386A>G

1 paper

NM_002629.4

p.P125L

c.374C>T

1 paper

NM_002629.4

p.S118C

c.353C>G

1 paper

NM_002629.4

p.S118A

c.352T>G

1 paper

NM_002629.4

p.A101T

c.301G>A

4 papers

NM_002629.4

p.Y92F

c.275A>T

1 paper

NM_002629.4

p.R90W

c.268C>T

1 paper

NM_002629.4

p.E89A

c.266A>C

1 paper

NM_002629.4

p.L87L

c.261C>G