Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHO1
Variant:p.A204Fs

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
Selected Variant
1 paper
NM_016274.6
p.A204Fs
c.610delinsGTFs
Surrounding Variants
1 paper
NM_016274.6
p.S196F
c.587C>T
1 paper
NM_016274.6
p.E193Fs
c.577delinsGTFs
1 paper
NM_016274.6
p.I190I
c.570C>A
1 paper
NM_016274.6
p.R222W
c.664C>T
1 paper
NM_016274.6
p.S227A
c.679T>G
1 paper
NM_016274.6
p.A176A
c.528T>G
1 paper
NM_016274.6
p.P232L
c.695C>T
1 paper
NM_016274.6
p.V175_A176Splc
c.526-1G>A
1 paper
NM_016274.6
p.S233S
c.699C>A
2 papers
NM_016274.6
p.E245K
c.733G>A
1 paper
NM_016274.6
p.E245A
c.734A>C
1 paper
NM_016274.6
p.G250V
c.749G>T
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