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

3 papers

NM_133493.5

p.L1075fs

c.3223_3224fs

Surrounding Variants

1 paper

NM_133493.5

p.L1075_E1076delFs

c.3225_3228del4

2 papers

NM_133493.5

p.L1075insFs

c.3224dupT

1 paper

NM_133493.5

p.S1077F

c.3230C>T

1 paper

NM_133493.5

p.E1078del1

c.3232_3234delGAA

1 paper

NM_133493.5

p.E1078_F1079insFs

c.3234_3235insTT

1 paper

NM_133493.5

p.F1079L

c.3235T>C

1 paper

NM_133493.5

p.F1079L

c.3237C>A

1 paper

NM_133493.5

p.F1079L

c.3237C>G

2 papers

NM_133493.5

p.N1065K

c.3195C>A

2 papers

NM_133493.5

p.N1065K

c.3195C>G

1 paper

NM_133493.5

p.L1091F

c.3271C>T

1 paper

NM_133493.5

p.V1099M

c.3295G>A