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

3 papers

NM_021003.5

p.D239N

c.715G>A

Surrounding Variants

3 papers

NM_021003.5

p.D239A

c.716A>C

1 paper

NM_021003.5

p.C238S

c.713G>C

1 paper

NM_021003.5

p.D239E

c.717T>A

1 paper

NM_021003.5

p.D239E

c.717T>G

1 paper

NM_021003.5

p.C238S

c.712T>A

3 papers

NM_021003.5

p.D243A

c.728A>C

1 paper

NM_021003.5

p.I224T

c.671T>C

1 paper

NM_021003.5

p.P210L

c.629C>T

1 paper

NM_021003.5

p.P210fs

c.628_629fs

1 paper

NM_021003.5

p.C204S

c.611G>C

1 paper

NM_021003.5

p.C204S

c.610T>A

1 paper

NM_021003.5

p.D199A

c.596A>C