Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH1
Variant:p.Q109H

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.Q109H
c.327G>C
Surrounding Variants
1 paper
NM_020715.3
p.Q109H
c.327G>T
3 papers
NM_020715.3
p.Q113L
c.338A>T
1 paper
NM_020715.3
p.L93Q
c.278T>A
2 papers
NM_020715.3
p.N75S
c.224A>G
1 paper
NM_020715.3
p.L73P
c.218T>C
1 paper
NM_020715.3
p.G65C
c.193G>T
1 paper
NM_020715.3
p.R56*
c.166A>T
1 paper
NM_020715.3
p.Q159*
c.475C>T
1 paper
NM_020715.3
p.P174A
c.520C>G
1 paper
NM_020715.3
p.P182insFs
c.546dupC
1 paper
NM_020715.3
p.P182L
c.545C>T
1 paper
NM_020715.3
p.Y183fs
c.547_548fs
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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."