Varaico: Literature-Extracted Genetic Variants

Gene:AMOTL1
Variant:p.S889N

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.S889N
c.2666G>A
Surrounding Variants
2 papers
NM_130847.3
p.A891T
c.2671G>A
1 paper
NM_130847.3
p.E884K
c.2650G>A
1 paper
NM_130847.3
p.G897S
c.2689G>A
1 paper
NM_130847.3
p.A904D
c.2711C>A
1 paper
NM_130847.3
p.K869T
c.2606A>C
1 paper
NM_130847.3
p.A868P
c.2602G>C
1 paper
NM_130847.3
p.A914S
c.2740G>T
1 paper
NM_130847.3
p.P849fs
c.2545_2546fs
1 paper
NM_130847.3
p.P848T
c.2542C>A
1 paper
NM_130847.3
p.P848delFs
c.2542delC
1 paper
NM_130847.3
p.P847L
c.2540C>T
1 paper
NM_130847.3
p.N923I
c.2768A>T
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