Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH2
Variant:p.N387K

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.N387K
c.1161T>G
Surrounding Variants
1 paper
NM_172069.4
p.N387K
c.1161T>A
1 paper
NM_172069.4
p.S383L
c.1148C>T
1 paper
NM_172069.4
p.S400L
c.1199C>T
3 papers
NM_172069.4
p.K426R
c.1277A>G
1 paper
NM_172069.4
p.G342D
c.1025G>A
1 paper
NM_172069.4
p.I449V
c.1345A>G
1 paper
NM_172069.4
p.M320V
c.958A>G
1 paper
NM_172069.4
p.S307C
c.920C>G
1 paper
NM_172069.4
p.T305I
c.914C>T
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
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