Varaico: Literature-Extracted Genetic Variants

Gene:PPM1E
Variant:p.E44E

PPM1E

57 papers

RefSeq Summary

This gene encodes a member of the PPM family of serine/threonine-protein phosphatases. The encoded protein is localized to the nucleus and dephosphorylates and inactivates multiple substrates includin...

Pfam Domains

PP2Caa 230–481UCSCProtein phosphatase 2C

Gene Aliases

HGNC Name

protein phosphatase, Mg2+/Mn2+ dependent 1E

HGNC Alias Symbols

POPX1; KIAA1072; PP2CH; CaMKP-N

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_014906.5
p.E44E
c.132G>A
Surrounding Variants
7 papers
NM_014906.5
p.S45P
c.133T>C
1 paper
NM_014906.5
p.E48_E50ins1
c.144_149dup6
1 paper
NM_014906.5
p.S45S
c.135C>G
1 paper
NM_014906.5
p.P47fs
c.139_140fs
2 papers
NM_014906.5
p.P47S
c.139C>T
2 papers
NM_014906.5
p.E48_P49ins2
c.144_145ins6
1 paper
NM_014906.5
p.P49S
c.145C>T
4 papers
NM_014906.5
p.P33_E34ins2
c.99_100ins6
1 paper
NM_014906.5
p.P33_E34ins4
c.99_100ins12
1 paper
NM_014906.5
p.E32E
c.96G>A
1 paper
NM_014906.5
p.E32delFs
c.96delG
3 papers
NM_014906.5
p.P85R
c.254C>G
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