Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH2
Variant:p.E140_L141Splc

PLEKHH2

102 papers

Pfam Domains

PHaa 704–797UCSCPH domain
MyTH4aa 1003–1108UCSCMyTH4 domain
RA_2aa 1119–1221UCSCRA like domain
FERM_Maa 1227–1354UCSCFERM central domain

Gene Aliases

HGNC Name

pleckstrin homology, MyTH4 and FERM domain containing H2

HGNC Alias Symbols

KIAA2028; PLEKHH1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_172069.4
p.E140_L141Splc
c.421-32T>A
Surrounding Variants
1 paper
NM_172069.4
p.I159L
c.475A>T
1 paper
NM_172069.4
p.R160delFs
c.479_480delGA
1 paper
NM_172069.4
p.L180L
c.540A>G
1 paper
NM_172069.4
p.R201M
c.602G>T
2 papers
NM_172069.4
p.P204S
c.610C>T
1 paper
NM_172069.4
p.K218*
c.652A>T
1 paper
NM_172069.4
p.R83S
c.249A>C
1 paper
NM_172069.4
p.R83S
c.249A>T
1 paper
NM_172069.4
p.S237C
c.710C>G
1 paper
NM_172069.4
p.N245insFs
c.734_735insAG
1 paper
NM_172069.4
p.R250K
c.749G>A
1 paper
NM_172069.4
p.S259*
c.776C>A
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