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.E365delFs

c.1093delG

Surrounding Variants

1 paper

NM_032208.3

p.E363_E364Splc

c.1090-12A>G

1 paper

NM_032208.3

p.T377M

c.1130C>T

4 papers

NM_032208.3

p.Y383C

c.1148A>G

5 papers

NM_032208.3

p.G384S

c.1150G>A

1 paper

NM_032208.3

p.R386K

c.1157G>A

1 paper

NM_032208.3

p.G387G

c.1161C>T

1 paper

NM_032208.3

p.V388I

c.1162G>A

2 papers

NM_032208.3

p.M394T

c.1181T>C

1 paper

NM_032208.3

p.E395_V396Splc

c.1185+16C>A

1 paper

NM_032208.3

p.R397C

c.1189C>T

1 paper

NM_032208.3

p.R397H

c.1190G>A

2 papers

NM_032208.3

p.T404I

c.1211C>T