Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH3
Variant:p.W114_R119del6

PLEKHH3

40 papers

Pfam Domains

MyTH4aa 287–397UCSCMyTH4 domain
RA_2aa 402–497UCSCRA like domain
FERM_Maa 505–664UCSCFERM central domain

Gene Aliases

HGNC Name

pleckstrin homology, MyTH4 and FERM domain containing H3

HGNC Alias Symbol

FLJ21019

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024927.5
p.W114_R119del6
c.340_356del18
Surrounding Variants
1 paper
NM_024927.5
p.P113_F122del10
c.337_365del30
1 paper
NM_024927.5
p.D130E
c.390T>G
1 paper
NM_024927.5
p.D130E
c.390T>A
1 paper
NM_024927.5
p.R104Q
c.311G>A
1 paper
NM_024927.5
p.Y103F
c.308A>T
1 paper
NM_024927.5
p.A139T
c.415G>A
1 paper
NM_024927.5
p.I96T
c.287T>C
1 paper
NM_024927.5
p.R189C
c.565C>T
1 paper
NM_024927.5
p.L204fs
c.610_611fs
1 paper
NM_024927.5
p.C219Y
c.656G>A
1 paper
NM_024927.5
p.P64fs
c.190_191fs
1 paper
NM_024927.5
p.P64delFs
c.191delG
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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."