Varaico: Literature-Extracted Genetic Variants

Gene:AMOTL1
Variant:p.D573E

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.D573E
c.1719C>A
Surrounding Variants
1 paper
NM_130847.3
p.D573E
c.1719C>G
1 paper
NM_130847.3
p.R575P
c.1724G>C
1 paper
NM_130847.3
p.R576*
c.1726A>T
2 papers
NM_130847.3
p.E579K
c.1735G>A
1 paper
NM_130847.3
p.R568W
c.1702C>T
1 paper
NM_130847.3
p.L581V
c.1741C>G
1 paper
NM_130847.3
p.Y605S
c.1814A>C
1 paper
NM_130847.3
p.K611R
c.1832A>G
1 paper
NM_130847.3
p.Q618*
c.1852C>T
1 paper
NM_130847.3
p.R626*
c.1876C>T
1 paper
NM_130847.3
p.R676Q
c.2027G>A
2 papers
NM_130847.3
p.A679T
c.2035G>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."