Varaico: Literature-Extracted Genetic Variants

Gene:ANTXR1
Variant:p.A2S

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.A2S
c.4G>T
Surrounding Variants
1 paper
NM_032208.3
p.A2T
c.4G>A
1 paper
NM_032208.3
p.A2V
c.5C>T
1 paper
NM_032208.3
p.T3_R6del4
c.7_17del12
2 papers
NM_032208.3
p.M1R
c.2T>G
1 paper
NM_032208.3
p.M1_A2delFs
c.3_6del4
5 papers
NM_032208.3
p.A4_G10insFs
c.12_30dup19
1 paper
NM_032208.3
p.M1V
c.1A>G
3 papers
NM_032208.3
p.R7K
c.20G>A
3 papers
NM_032208.3
p.I11fs
c.31_32fs
1 paper
NM_032208.3
p.A19V
c.56C>T
1 paper
NM_032208.3
p.V22Fs
c.65delinsCGTFs
4 papers
NM_032208.3
p.G30insFs
c.89dupG
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