Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHO1

PLEKHO1

69 papers

Pfam Domains

PHaa 22–132UCSCPH domain
PHaa 22–132UCSCPH domain

Gene Aliases

HGNC Name

pleckstrin homology domain containing O1

HGNC Alias Symbols

CKIP-1; OC120

Papers
RefSeq ID
Protein change
DNA change
1–12 of 84 variants
5 papers
NM_016274.6
p.K42_N43delFs
c.124_128del5
4 papers
NM_016274.6
p.I124_N128del5
c.370_383del15
3 papers
NM_016274.6
p.P21A
c.61C>G
2 papers
NM_016274.6
p.R10_G11Splc
c.31-2A>G
2 papers
NM_016274.6
p.K42fs
c.124_125fs
2 papers
NM_016274.6
p.K42T
c.125A>C
2 papers
NM_016274.6
p.N43H
c.127A>C
2 papers
NM_016274.6
p.Y45ins1
c.133_134insTGT
2 papers
NM_016274.6
p.I55insFs
c.163_164insA
2 papers
NM_016274.6
p.E59delFs
c.175delG
2 papers
NM_016274.6
p.E245K
c.733G>A
2 papers
NM_016274.6
p.K259insFs
c.775_776insA
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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."