Varaico: Literature-Extracted Genetic Variants

Gene:AMOTL1
Variant:p.E507K

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
2 papers
NM_130847.3
p.E507K
c.1519G>A
Surrounding Variants
1 paper
NM_130847.3
p.I508S
c.1523T>G
1 paper
NM_130847.3
p.A499V
c.1496C>T
1 paper
NM_130847.3
p.A499T
c.1495G>A
1 paper
NM_130847.3
p.K498K
c.1494G>A
1 paper
NM_130847.3
p.R493_K498del6
c.1477_1493del18
1 paper
NM_130847.3
p.Y483N
c.1447T>A
1 paper
NM_130847.3
p.S480L
c.1439C>T
1 paper
NM_130847.3
p.R521Q
c.1562G>A
1 paper
NM_130847.3
p.N550Splc
c.1648+6824A>G
1 paper
NM_130847.3
p.Y463Y
c.1389C>T
1 paper
NM_130847.3
p.T449I
c.1346C>T
1 paper
NM_130847.3
p.V445G
c.1334T>G
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