Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH1
Variant:p.P182insFs

PLEKHH1

87 papers

Pfam Domains

PHaa 579–672UCSCPH domain
MyTH4aa 880–984UCSCMyTH4 domain
RA_2aa 995–1102UCSCRA like domain
FERM_Maa 1101–1230UCSCFERM central domain

Gene Aliases

HGNC Name

pleckstrin homology, MyTH4 and FERM domain containing H1

HGNC Alias Symbol

KIAA1200

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020715.3
p.P182insFs
c.546dupC
Surrounding Variants
1 paper
NM_020715.3
p.P182L
c.545C>T
1 paper
NM_020715.3
p.Y183fs
c.547_548fs
1 paper
NM_020715.3
p.P174A
c.520C>G
1 paper
NM_020715.3
p.G210S
c.628G>A
1 paper
NM_020715.3
p.G221A
c.662G>C
1 paper
NM_020715.3
p.L223M
c.667C>A
1 paper
NM_020715.3
p.Q159*
c.475C>T
1 paper
NM_020715.3
p.H245R
c.734A>G
1 paper
NM_020715.3
p.P257H
c.770C>A
1 paper
NM_020715.3
p.G260R
c.778G>C
1 paper
NM_020715.3
p.G260A
c.779G>C
1 paper
NM_020715.3
p.G285A
c.854G>C
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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."