Varaico: Literature-Extracted Genetic Variants

PPM1A

69 papers

RefSeq Summary

The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphat...

Pfam Domains

PP2Caa 22–284UCSCProtein phosphatase 2C

PP2C_Caa 285–363UCSCProtein serine/threonine phosphatase 2C, C-terminal domain

Gene Aliases

HGNC Name

protein phosphatase, Mg2+/Mn2+ dependent 1A

HGNC Alias Symbols

MGC9201; PP2Calpha; PP2CA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021003.5

p.M29I

c.87G>C

Surrounding Variants

1 paper

NM_021003.5

p.M29I

c.87G>A

1 paper

NM_021003.5

p.M29I

c.87G>T

1 paper

NM_021003.5

p.S28G

c.82A>G

1 paper

NM_021003.5

p.Y24*

c.72T>A

1 paper

NM_021003.5

p.R23*

c.67C>T

1 paper

NM_021003.5

p.E37Q

c.109G>C

1 paper

NM_021003.5

p.D38N

c.112G>A

1 paper

NM_021003.5

p.D38_H40delFs

c.114_118del5

1 paper

NM_021003.5

p.N20D

c.58A>G

1 paper

NM_021003.5

p.G19D

c.56G>A

1 paper

NM_021003.5

p.A42T

c.124G>A

1 paper

NM_021003.5

p.V43E

c.128T>A