Varaico: Literature-Extracted Genetic Variants

Gene:ANTXR1
Variant:p.V349A

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.V349A
c.1046T>C
Surrounding Variants
1 paper
NM_032208.3
p.V349_I350Splc
c.1047+1G>A
1 paper
NM_032208.3
p.W341L
c.1022G>T
3 papers
NM_032208.3
p.I329S
c.986T>G
8 papers
NM_032208.3
p.A326T
c.976G>A
1 paper
NM_032208.3
p.A324T
c.970G>A
1 paper
NM_032208.3
p.C317_S318Splc
c.952-21G>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."