Varaico: Literature-Extracted Genetic Variants

Gene:AMOT

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
1–12 of 79 variants
3 papers
NM_001113490.2
p.Q642H
c.1926G>T
3 papers
NM_001113490.2
p.Q642H
c.1926G>C
2 papers
NM_001113490.2
p.A968_V969del1
c.2903_2905delCAG
2 papers
NM_001113490.2
p.P1028_A1029ins1
c.3084_3085insCCT
1 paper
NM_001113490.2
p.M1T
c.2T>C
1 paper
NM_001113490.2
p.S50G
c.148A>G
1 paper
NM_001113490.2
p.P64L
c.191C>T
1 paper
NM_001113490.2
p.R77*
c.229C>T
1 paper
NM_001113490.2
p.E79Q
c.235G>C
1 paper
NM_001113490.2
p.G82A
c.245G>C
1 paper
NM_001113490.2
p.M100V
c.298A>G
1 paper
NM_001113490.2
p.Q101H
c.303A>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."