Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH2

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
1–12 of 127 variants
3 papers
NM_172069.4
p.K426R
c.1277A>G
3 papers
NM_172069.4
p.P481T
c.1441C>A
2 papers
NM_172069.4
p.P204S
c.610C>T
2 papers
NM_172069.4
p.A475T
c.1423G>A
2 papers
NM_172069.4
p.S622C
c.1865C>G
2 papers
NM_172069.4
p.N1217S
c.3650A>G
2 papers
NM_172069.4
p.G1227R
c.3679G>A
2 papers
NM_172069.4
p.G1227R
c.3679G>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.K14K
c.42G>A
1 paper
NM_172069.4
p.L24L
c.72C>G
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."