Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH2
Variant:p.A1459T

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.A1459T
c.4375G>A
Surrounding Variants
1 paper
NM_172069.4
p.I1440I
c.4320C>A
1 paper
NM_172069.4
p.T1487T
c.4461C>A
1 paper
NM_172069.4
p.K1432_I1433Splc
c.4297-147A>G
1 paper
NM_172069.4
p.P1431S
c.4291C>T
1 paper
NM_172069.4
p.K1395R
c.4184A>G
1 paper
NM_172069.4
p.L1381F
c.4143A>C
1 paper
NM_172069.4
p.L1381F
c.4143A>T
1 paper
NM_172069.4
p.V1373L
c.4117G>C
1 paper
NM_172069.4
p.V1373L
c.4117G>T
2 papers
NM_172069.4
p.W1370*
c.4110G>A
2 papers
NM_172069.4
p.W1370*
c.4109G>A
1 paper
NM_172069.4
p.R1337H
c.4010G>A
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