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

1–12 of 60 variants

5 papers

NM_021003.5

p.D146A

c.437A>C

5 papers

NM_021003.5

p.D146E

c.438C>A

5 papers

NM_021003.5

p.D146E

c.438C>G

3 papers

NM_021003.5

p.V43G

c.128T>G

3 papers

NM_021003.5

p.D239N

c.715G>A

3 papers

NM_021003.5

p.D239A

c.716A>C

3 papers

NM_021003.5

p.D243A

c.728A>C

2 papers

NM_021003.5

p.D60N

c.178G>A

2 papers

NM_021003.5

p.R174G

c.520C>G

2 papers

NM_021003.5

p.D282N

c.844G>A

1 paper

NM_021003.5

p.G2A

c.5G>C

1 paper

NM_021003.5

p.K9M

c.26A>T