Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH2
Variant:p.I449V

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.I449V
c.1345A>G
Surrounding Variants
3 papers
NM_172069.4
p.K426R
c.1277A>G
2 papers
NM_172069.4
p.A475T
c.1423G>A
1 paper
NM_172069.4
p.I479_R480del2
c.1435_1439del6
3 papers
NM_172069.4
p.P481T
c.1441C>A
1 paper
NM_172069.4
p.T487S
c.1459A>T
1 paper
NM_172069.4
p.D488A
c.1463A>C
1 paper
NM_172069.4
p.S400L
c.1199C>T
1 paper
NM_172069.4
p.D508G
c.1523A>G
1 paper
NM_172069.4
p.G510E
c.1529G>A
1 paper
NM_172069.4
p.N387K
c.1161T>A
1 paper
NM_172069.4
p.N387K
c.1161T>G
1 paper
NM_172069.4
p.S513F
c.1538C>T
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