Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH2
Variant:p.R642H

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.R642H
c.1925G>A
Surrounding Variants
1 paper
NM_172069.4
p.G648C
c.1942G>T
1 paper
NM_172069.4
p.S649R
c.1945A>C
1 paper
NM_172069.4
p.S649R
c.1947C>A
1 paper
NM_172069.4
p.S649R
c.1947C>G
1 paper
NM_172069.4
p.A652T
c.1954G>A
1 paper
NM_172069.4
p.S630Y
c.1889C>A
1 paper
NM_172069.4
p.E625K
c.1873G>A
2 papers
NM_172069.4
p.S622C
c.1865C>G
1 paper
NM_172069.4
p.S591Y
c.1772C>A
1 paper
NM_172069.4
p.A578V
c.1733C>T
1 paper
NM_172069.4
p.N576Splc
c.1727-213C>T
1 paper
NM_172069.4
p.V662M
c.1984G>A
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