Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH2
Variant:p.S752I

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.S752I
c.2255G>T
Surrounding Variants
1 paper
NM_172069.4
p.A753V
c.2258C>T
1 paper
NM_172069.4
p.K744T
c.2231A>C
1 paper
NM_172069.4
p.K728I
c.2183A>T
1 paper
NM_172069.4
p.M713T
c.2138T>C
1 paper
NM_172069.4
p.N701K
c.2103T>A
1 paper
NM_172069.4
p.N701K
c.2103T>G
1 paper
NM_172069.4
p.S693fs
c.2077_2078fs
1 paper
NM_172069.4
p.Q683H
c.2049G>C
1 paper
NM_172069.4
p.Q683H
c.2049G>T
1 paper
NM_172069.4
p.P671S
c.2011C>T
1 paper
NM_172069.4
p.S664F
c.1991C>T
1 paper
NM_172069.4
p.V662M
c.1984G>A
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