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

7 papers

NM_032208.3

p.T478_G479Splc

c.1435-12A>G

Surrounding Variants

5 papers

NM_032208.3

p.G479fs

c.1435_1436fs

2 papers

NM_032208.3

p.R480C

c.1438C>T

1 paper

NM_032208.3

p.R480H

c.1439G>A

1 paper

NM_032208.3

p.V487L

c.1459G>C

1 paper

NM_032208.3

p.V487V

c.1461C>A

1 paper

NM_032208.3

p.Y495_P496insA

c.1483_1487ins3

1 paper

NM_032208.3

p.P506L

c.1517C>T

1 paper

NM_032208.3

p.T513delFs

c.1539delT

1 paper

NM_032208.3

p.P514S

c.1540C>T

1 paper

NM_032208.3

p.P515fs

c.1543_1544fs

1 paper

NM_032208.3

p.P515S

c.1543C>T

1 paper

NM_032208.3

p.P517S

c.1549C>T