Varaico: Literature-Extracted Genetic Variants

Gene:PPM1E
Variant:p.E99_E100ins6

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
3 papers
NM_014906.5
p.E99_E100ins6
c.295_299ins18
Surrounding Variants
1 paper
NM_014906.5
p.E99_E100ins12
c.295_299ins36
1 paper
NM_014906.5
p.A102T
c.304G>A
2 papers
NM_014906.5
p.E96del1
c.286_287delGAG
1 paper
NM_014906.5
p.S112T
c.334T>A
3 papers
NM_014906.5
p.P85R
c.254C>G
1 paper
NM_014906.5
p.E138E
c.414G>A
2 papers
NM_014906.5
p.S144_L145ins6
c.430_434ins18
1 paper
NM_014906.5
p.P49S
c.145C>T
2 papers
NM_014906.5
p.E48_P49ins2
c.144_145ins6
1 paper
NM_014906.5
p.P47fs
c.139_140fs
2 papers
NM_014906.5
p.P47S
c.139C>T
1 paper
NM_014906.5
p.S45S
c.135C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."