Varaico: Literature-Extracted Genetic Variants

ANTXR2

177 papers

RefSeq Summary

This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile...

Pfam Domains

VWAaa 1–134UCSCvon Willebrand factor type A domain

Anth_Igaa 139–240UCSCAnthrax receptor extracellular domain

Ant_Caa 317–409UCSCAnthrax receptor C-terminus region

Ant_Caa 394–485UCSCAnthrax receptor C-terminus region

Gene Aliases

HGNC Name

ANTXR cell adhesion molecule 2

HGNC Alias Symbols

CMG2; CMG-2; FLJ31074

Papers

RefSeq ID

Protein change

DNA change

1–12 of 223 variants

35 papers

NM_058172.6

p.P358_A359insFs

c.1074_1075insC

27 papers

NM_058172.6

p.P358delFs

c.1074delA

21 papers

NM_058172.6

p.L45P

c.134T>C

18 papers

NM_058172.6

p.Y381C

c.1142A>G

12 papers

NM_058172.6

p.G105D

c.314G>A

12 papers

NM_058172.6

p.I189T

c.566T>C

12 papers

NM_058172.6

p.C218R

c.652T>C

12 papers

NM_058172.6

p.P358_A359insFs

c.1074_1075insCC

10 papers

NM_058172.6

p.L329R

c.986T>G

10 papers

NM_058172.6

p.A357P

c.1069G>C

9 papers

NM_058172.6

p.S75Splc

c.225-4G>A

9 papers

NM_058172.6

p.E233Splc

c.697+1G>A