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

4 papers

NM_032208.3

p.G30insFs

c.89dupG

Surrounding Variants

2 papers

NM_032208.3

p.R31fs

c.91_92fs

1 paper

NM_032208.3

p.G35R

c.103G>A

1 paper

NM_032208.3

p.V22Fs

c.65delinsCGTFs

1 paper

NM_032208.3

p.A19V

c.56C>T

3 papers

NM_032208.3

p.C39F

c.116G>T

2 papers

NM_032208.3

p.Y40N

c.118T>A

3 papers

NM_032208.3

p.L45P

c.134T>C

3 papers

NM_032208.3

p.I11fs

c.31_32fs

1 paper

NM_032208.3

p.F47S

c.140T>C

1 paper

NM_032208.3

p.I48F

c.142A>T

3 papers

NM_032208.3

p.R7K

c.20G>A

2 papers

NM_032208.3

p.D50N

c.148G>A