Varaico: Literature-Extracted Genetic Variants

Gene:PPM1K
Variant:p.D298A

PPM1K

76 papers

RefSeq Summary

This gene encodes a member of the PPM family of Mn2+/Mg2+-dependent protein phosphatases. The encoded protein, essential for cell survival and development, is targeted to the mitochondria where it pla...

Pfam Domains

PP2Caa 96–339UCSCProtein phosphatase 2C

Gene Aliases

HGNC Name

protein phosphatase, Mg2+/Mn2+ dependent 1K

HGNC Alias Symbols

DKFZp761G058; PP2Ckappa; hPTMP; PP2Cm

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_152542.5
p.D298A
c.893A>C
Surrounding Variants
1 paper
NM_152542.5
p.T296_D298delFs
c.887_894del8
1 paper
NM_152542.5
p.T296_G299insFs
c.887_896dup10
1 paper
NM_152542.5
p.I309V
c.925A>G
1 paper
NM_152542.5
p.E321K
c.961G>A
1 paper
NM_152542.5
p.Y352C
c.1055A>G
1 paper
NM_152542.5
p.S355F
c.1064C>T
1 paper
NM_152542.5
p.G369E
c.1106G>A
2 papers
NM_152542.5
p.K284*
c.850A>T
1 paper
NM_152542.5
p.R282S
c.846G>T
1 paper
NM_152542.5
p.R282S
c.846G>C
1 paper
NM_152542.5
p.E279ins1
c.836_837insCAC
1 paper
NM_152542.5
p.I264V
c.790A>G
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