Varaico: Literature-Extracted Genetic Variants

Gene:AMOT
Variant:p.Q642H

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
3 papers
NM_001113490.2
p.Q642H
c.1926G>C
Surrounding Variants
3 papers
NM_001113490.2
p.Q642H
c.1926G>T
1 paper
NM_001113490.2
p.E632Q
c.1894G>C
1 paper
NM_001113490.2
p.E621V
c.1862A>T
1 paper
NM_001113490.2
p.K619_R620ins1
c.1857_1858insCCT
1 paper
NM_001113490.2
p.L664delFs
c.1992delA
1 paper
NM_001113490.2
p.T709R
c.2126C>G
1 paper
NM_001113490.2
p.I711I
c.2133C>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."