Varaico: Literature-Extracted Genetic Variants

Gene:AMOTL1
Variant:p.R157H

AMOTL1

91 papers

RefSeq Summary

The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability an...

Pfam Domains

Angiomotin_Caa 605–811UCSCAngiomotin C terminal

Gene Aliases

HGNC Name

angiomotin like 1

HGNC Alias Symbol

JEAP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_130847.3
p.R157H
c.470G>A
Surrounding Variants
7 papers
NM_130847.3
p.R157C
c.469C>T
1 paper
NM_130847.3
p.E159E
c.477A>G
4 papers
NM_130847.3
p.P160L
c.479C>T
2 papers
NM_130847.3
p.Q161R
c.482A>G
1 paper
NM_130847.3
p.H165_Q166del0
c.493_498del6
1 paper
NM_130847.3
p.T141A
c.421A>G
1 paper
NM_130847.3
p.L188L
c.562C>T
1 paper
NM_130847.3
p.Y191*
c.573C>A
1 paper
NM_130847.3
p.Y191*
c.573C>G
1 paper
NM_130847.3
p.Q122E
c.364C>G
1 paper
NM_130847.3
p.Q205Q
c.615G>A
1 paper
NM_130847.3
p.L107L
c.319C>T
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."