Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH2
Variant:p.L24L

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.L24L
c.72C>G
Surrounding Variants
1 paper
NM_172069.4
p.S32N
c.95G>A
1 paper
NM_172069.4
p.K14K
c.42G>A
1 paper
NM_172069.4
p.E36K
c.106G>A
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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."