Varaico: Literature-Extracted Genetic Variants

Gene:AMOT
Variant:p.V913A

AMOT

89 papers

RefSeq Summary

This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs. The encoded protein is expressed predominantly i...

Pfam Domains

Angiomotin_Caa 599–806UCSCAngiomotin C terminal

Gene Aliases

HGNC Name

angiomotin

HGNC Alias Symbol

KIAA1071

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001113490.2
p.V913A
c.2738T>C
Surrounding Variants
1 paper
NM_001113490.2
p.V913V
c.2739T>A
1 paper
NM_001113490.2
p.V915A
c.2744T>C
1 paper
NM_001113490.2
p.M907V
c.2719A>G
1 paper
NM_001113490.2
p.A926del1
c.2776_2777delGGC
1 paper
NM_001113490.2
p.A898T
c.2692G>A
1 paper
NM_001113490.2
p.P886ins9
c.2656_2657ins27
1 paper
NM_001113490.2
p.A876V
c.2627C>T
1 paper
NM_001113490.2
p.T866N
c.2597C>A
2 papers
NM_001113490.2
p.A968_V969del1
c.2903_2905delCAG
1 paper
NM_001113490.2
p.Q970*
c.2908C>T
1 paper
NM_001113490.2
p.P982P
c.2946G>A
1 paper
NM_001113490.2
p.P986L
c.2957C>T
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