Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH2
Variant:p.L1327P

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.L1327P
c.3980T>C
Surrounding Variants
1 paper
NM_172069.4
p.R1328W
c.3982C>T
1 paper
NM_172069.4
p.L1320I
c.3958C>A
1 paper
NM_172069.4
p.R1337H
c.4010G>A
1 paper
NM_172069.4
p.E1272*
c.3814G>T
1 paper
NM_172069.4
p.G1269A
c.3806G>C
2 papers
NM_172069.4
p.W1370*
c.4109G>A
2 papers
NM_172069.4
p.W1370*
c.4110G>A
1 paper
NM_172069.4
p.V1373L
c.4117G>C
1 paper
NM_172069.4
p.V1373L
c.4117G>T
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.Q1239H
c.3717G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."