Varaico: Literature-Extracted Genetic Variants

Gene:ILKAP
Variant:p.P53S

ILKAP

34 papers

RefSeq Summary

The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signal...

Pfam Domains

PP2Caa 108–383UCSCProtein phosphatase 2C

Gene Aliases

HGNC Name

ILK associated serine/threonine phosphatase

HGNC Alias Symbols

DKFZP434J2031; FLJ10181; PPM1O

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030768.3
p.P53S
c.157C>T
Surrounding Variants
1 paper
NM_030768.3
p.A54T
c.160G>A
1 paper
NM_030768.3
p.G60R
c.178G>C
1 paper
NM_030768.3
p.K24E
c.70A>G
1 paper
NM_030768.3
p.Q23R
c.68A>G
1 paper
NM_030768.3
p.G19fs
c.55_56fs
1 paper
NM_030768.3
p.G60R
c.178G>C
1 paper
NM_030768.3
p.I66V
c.196A>G
1 paper
NM_030768.3
p.I66M
c.198A>G
1 paper
NM_030768.3
p.V97A
c.290T>C
1 paper
NM_030768.3
p.E117K
c.349G>A
1 paper
NM_030768.3
p.R118M
c.353G>T
1 paper
NM_030768.3
p.H125H
c.375C>T
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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."