Varaico: Literature-Extracted Genetic Variants

Gene:AMOT
Variant:p.S823C

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.S823C
c.2467A>T
Surrounding Variants
1 paper
NM_001113490.2
p.S823I
c.2468G>T
1 paper
NM_001113490.2
p.R815*
c.2443C>T
1 paper
NM_001113490.2
p.G807D
c.2420G>A
1 paper
NM_001113490.2
p.S802L
c.2405C>T
1 paper
NM_001113490.2
p.S800F
c.2399C>T
1 paper
NM_001113490.2
p.N793S
c.2378A>G
1 paper
NM_001113490.2
p.R783R
c.2349G>C
1 paper
NM_001113490.2
p.S774R
c.2322C>G
1 paper
NM_001113490.2
p.S774R
c.2322C>A
1 paper
NM_001113490.2
p.S774R
c.2320A>C
1 paper
NM_001113490.2
p.R768H
c.2303G>A
1 paper
NM_001113490.2
p.E757K
c.2269G>A
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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."