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.S93A

c.277T>G

Surrounding Variants

1 paper

NM_021003.5

p.S88F

c.263C>T

1 paper

NM_021003.5

p.V114_K118del5

c.340_353del15

1 paper

NM_021003.5

p.M115R

c.344T>G

1 paper

NM_021003.5

p.G121S

c.361G>A

1 paper

NM_021003.5

p.H62Q

c.186T>A

1 paper

NM_021003.5

p.H62Q

c.186T>G

1 paper

NM_021003.5

p.H62Y

c.184C>T

2 papers

NM_021003.5

p.D60N

c.178G>A

1 paper

NM_021003.5

p.S127A

c.379T>G

1 paper

NM_021003.5

p.T128A

c.382A>G

1 paper

NM_021003.5

p.L50V

c.148C>G

1 paper

NM_021003.5

p.V43E

c.128T>A