Varaico: Literature-Extracted Genetic Variants

Gene:ANTXR1
Variant:p.Q110L

ANTXR1

139 papers

RefSeq Summary

This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking prote...

Pfam Domains

VWAaa 44–214UCSCvon Willebrand factor type A domain
Anth_Igaa 218–319UCSCAnthrax receptor extracellular domain
Ant_Caa 396–488UCSCAnthrax receptor C-terminus region

Gene Aliases

HGNC Name

ANTXR cell adhesion molecule 1

HGNC Alias Symbols

TEM8; FLJ21776; FLJ10601

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032208.3
p.Q110L
c.329A>T
Surrounding Variants
1 paper
NM_032208.3
p.E108D
c.324A>T
4 papers
NM_032208.3
p.G105D
c.314G>A
2 papers
NM_032208.3
p.G116V
c.347G>T
1 paper
NM_032208.3
p.Q104*
c.310C>T
1 paper
NM_032208.3
p.D117E
c.351C>A
1 paper
NM_032208.3
p.D117E
c.351C>G
2 papers
NM_032208.3
p.T118A
c.352A>G
2 papers
NM_032208.3
p.T118N
c.353C>A
1 paper
NM_032208.3
p.I102fs
c.304_305fs
2 papers
NM_032208.3
p.Y119H
c.355T>C
2 papers
NM_032208.3
p.I102insFs
c.304_305insA
1 paper
NM_032208.3
p.H121Q
c.363T>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."