Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH3
Variant:p.A426delFs

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.A426delFs
c.1276delC
Surrounding Variants
1 paper
NM_024927.5
p.R382W
c.1144C>T
2 papers
NM_024927.5
p.S367L
c.1100C>T
1 paper
NM_024927.5
p.R443G
c.1327C>G
1 paper
NM_024927.5
p.A447V
c.1340C>T
1 paper
NM_024927.5
p.T470S
c.1408A>T
1 paper
NM_024927.5
p.T470S
c.1409C>G
1 paper
NM_024927.5
p.L500P
c.1499T>C
1 paper
NM_024927.5
p.G317R
c.949G>C
1 paper
NM_024927.5
p.P283P
c.849C>T
3 papers
NM_024927.5
p.R281W
c.841C>T
1 paper
NM_024927.5
p.Q547H
c.1641G>T
1 paper
NM_024927.5
p.Q547H
c.1641G>C
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