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.R190Q

c.569G>A

Surrounding Variants

1 paper

NM_032208.3

p.I191T

c.572T>C

1 paper

NM_032208.3

p.I191S

c.572T>G

2 papers

NM_032208.3

p.R190delFs

c.568delC

1 paper

NM_032208.3

p.A192V

c.575C>T

1 paper

NM_032208.3

p.P200L

c.599C>T

1 paper

NM_032208.3

p.A207T

c.619G>A

1 paper

NM_032208.3

p.H213R

c.638A>G

1 paper

NM_032208.3

p.Q187_L188Splc

c.562-73A>G

1 paper

NM_032208.3

p.T186S

c.556A>T

1 paper

NM_032208.3

p.F183F

c.549C>T

8 papers

NM_032208.3

p.R169*

c.505C>T

1 paper

NM_032208.3

p.A165_N166insFs

c.495_496insA