Varaico: Literature-Extracted Genetic Variants

Gene:AMOTL1
Variant:p.R712Splc

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.R712Splc
c.2135+3G>A
Surrounding Variants
1 paper
NM_130847.3
p.A709V
c.2126C>T
1 paper
NM_130847.3
p.A705T
c.2113G>A
1 paper
NM_130847.3
p.I697I
c.2091C>A
1 paper
NM_130847.3
p.K690M
c.2069A>T
1 paper
NM_130847.3
p.A682V
c.2045C>T
2 papers
NM_130847.3
p.A679T
c.2035G>A
1 paper
NM_130847.3
p.R676Q
c.2027G>A
1 paper
NM_130847.3
p.I716V
c.2146A>G
1 paper
NM_130847.3
p.E740V
c.2219A>T
1 paper
NM_130847.3
p.T754Splc
c.2261+2T>C
1 paper
NM_130847.3
p.R626*
c.1876C>T
1 paper
NM_130847.3
p.Q618*
c.1852C>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."