Varaico: Literature-Extracted Genetic Variants

CD109

250 papers

RefSeq Summary

This gene encodes a glycosyl phosphatidylinositol (GPI)-linked glycoprotein that localizes to the surface of platelets, activated T-cells, and endothelial cells. The protein binds to and negatively re...

Pfam Domains

MG2aa 130–221UCSCMG2 domain

MG3aa 223–302UCSCMacroglobulin domain MG3

A2M_BRDaa 468–599UCSCAlpha-2-macroglobulin bait region domain

A2Maa 693–784UCSCAlpha-2-macroglobulin family

Gene Aliases

HGNC Name

CD109 molecule

HGNC Alias Symbols

FLJ38569; DKFZp762L1111; CPAMD7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_133493.5

p.T1241M

c.3722C>T

NM_001159588.3

p.T1164M

c.3491C>T

Surrounding Variants

1 paper

NM_133493.5

p.E1234_L1235Splc

c.3703-2A>G

1 paper

NM_133493.5

p.A1253V

c.3758C>T

1 paper

NM_133493.5

p.C1255Y

c.3764G>A

1 paper

NM_133493.5

p.Q1256_L1257Splc

c.3768+1G>A

1 paper

NM_133493.5

p.G1176S

c.3526G>A

1 paper

NM_133493.5

p.L1175S

c.3524T>C

1 paper

NM_133493.5

p.L1175insFs

c.3524_3525insC

1 paper

NM_133493.5

p.R1172I

c.3515G>T

1 paper

NM_133493.5

p.S1151*

c.3452C>A

1 paper

NM_133493.5

p.S1151*

c.3452C>G

1 paper

NM_133493.5

p.L1150I

c.3448C>A

1 paper

NM_133493.5

p.A1146T

c.3436G>A