Varaico: Literature-Extracted Genetic Variants

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

1–12 of 176 variants

11 papers

NM_032208.3

p.R88*

c.262C>T

10 papers

NM_032208.3

p.R438C

c.1312C>T

8 papers

NM_032208.3

p.R169*

c.505C>T

8 papers

NM_032208.3

p.A326T

c.976G>A

7 papers

NM_032208.3

p.T478_G479Splc

c.1435-12A>G

5 papers

NM_032208.3

p.A4_G10insFs

c.12_30dup19

5 papers

NM_032208.3

p.Q137L

c.410A>T

5 papers

NM_032208.3

p.Q137Q

c.411A>G

5 papers

NM_032208.3

p.G384S

c.1150G>A

5 papers

NM_032208.3

p.G479fs

c.1435_1436fs

4 papers

NM_032208.3

p.G30insFs

c.89dupG

4 papers

NM_032208.3

p.G105D

c.314G>A