Varaico: Literature-Extracted Genetic Variants

Gene:AMOTL1
Variant:p.S796F

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.S796F
c.2387C>T
Surrounding Variants
1 paper
NM_130847.3
p.A791fs
c.2371_2372fs
1 paper
NM_130847.3
p.A791delFs
c.2371delG
1 paper
NM_130847.3
p.R789H
c.2366G>A
1 paper
NM_130847.3
p.A780T
c.2338G>A
1 paper
NM_130847.3
p.S828T
c.2483G>C
1 paper
NM_130847.3
p.G830R
c.2488G>A
1 paper
NM_130847.3
p.G830R
c.2488G>C
3 papers
NM_130847.3
p.G830Splc
c.2488+1G>T
1 paper
NM_130847.3
p.T754Splc
c.2261+2T>C
1 paper
NM_130847.3
p.E740V
c.2219A>T
1 paper
NM_130847.3
p.I716V
c.2146A>G
1 paper
NM_130847.3
p.P847L
c.2540C>T
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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."