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.T513delFs

c.1539delT

Surrounding Variants

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

1 paper

NM_032208.3

p.P517_A518delFs

c.1551_1552delTG

2 papers

NM_032208.3

p.H520fs

c.1558_1559fs

1 paper

NM_032208.3

p.H520P

c.1559A>C

1 paper

NM_032208.3

p.P506L

c.1517C>T

1 paper

NM_032208.3

p.C521delFs

c.1561_1562delTG

2 papers

NM_032208.3

p.C521fs

c.1561_1562fs

1 paper

NM_032208.3

p.P522delFs

c.1564delC

1 paper

NM_032208.3

p.S527delFs

c.1579_1580delAG