Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH2
Variant:p.K575N

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.K575N
c.1725A>C
Surrounding Variants
1 paper
NM_172069.4
p.K575N
c.1725A>T
1 paper
NM_172069.4
p.A567T
c.1699G>A
1 paper
NM_172069.4
p.M564T
c.1691T>C
1 paper
NM_172069.4
p.M564V
c.1690A>G
1 paper
NM_172069.4
p.G561C
c.1681G>T
1 paper
NM_172069.4
p.Y555H
c.1663T>C
1 paper
NM_172069.4
p.I554F
c.1660A>T
1 paper
NM_172069.4
p.W550_E551Splc
c.1651-11T>G
1 paper
NM_172069.4
p.N576Splc
c.1727-213C>T
1 paper
NM_172069.4
p.A578V
c.1733C>T
1 paper
NM_172069.4
p.S591Y
c.1772C>A
2 papers
NM_172069.4
p.S622C
c.1865C>G
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