Varaico: Literature-Extracted Genetic Variants

Gene:AMOTL1
Variant:p.A417V

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
1 paper
NM_130847.3
p.A417V
c.1250C>T
Surrounding Variants
2 papers
NM_130847.3
p.P418L
c.1253C>T
1 paper
NM_130847.3
p.A424T
c.1270G>A
1 paper
NM_130847.3
p.D433H
c.1297G>C
1 paper
NM_130847.3
p.A434V
c.1301C>T
1 paper
NM_130847.3
p.A436V
c.1307C>T
1 paper
NM_130847.3
p.P390S
c.1168C>T
1 paper
NM_130847.3
p.V445G
c.1334T>G
1 paper
NM_130847.3
p.S389C
c.1165A>T
1 paper
NM_130847.3
p.T449I
c.1346C>T
1 paper
NM_130847.3
p.T384I
c.1151C>T
1 paper
NM_130847.3
p.P380L
c.1139C>T
1 paper
NM_130847.3
p.L379R
c.1136T>G
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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."