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

Selected Variant

1 paper

NM_032208.3

p.R397H

c.1190G>A

Surrounding Variants

1 paper

NM_032208.3

p.R397C

c.1189C>T

2 papers

NM_032208.3

p.T404I

c.1211C>T

1 paper

NM_032208.3

p.G407insFs

c.1220_1221dupGT

4 papers

NM_032208.3

p.G407insFs

c.1220_1221insT

2 papers

NM_032208.3

p.A408fs

c.1222_1223fs

1 paper

NM_032208.3

p.E411K

c.1231G>A

2 papers

NM_032208.3

p.N415N

c.1245T>C

1 paper

NM_032208.3

p.R417I

c.1250G>T

1 paper

NM_032208.3

p.P421S

c.1261C>T

1 paper

NM_032208.3

p.Y425*

c.1275T>A

1 paper

NM_032208.3

p.Y425*

c.1275T>G

1 paper

NM_032208.3

p.F427S

c.1280T>C