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.Q1007E

c.3019C>G

Surrounding Variants

1 paper

NM_133493.5

p.D1004N

c.3010G>A

1 paper

NM_133493.5

p.Y1002*

c.3006C>G

1 paper

NM_133493.5

p.P1001_Y1002insFs

c.3003_3004ins7

1 paper

NM_133493.5

p.P1001del1

c.3001_3002delCCT

1 paper

NM_133493.5

p.E998_A999delFs

c.2994_2997del4

1 paper

NM_133493.5

p.Q1063_P1064Splc

c.3189+7C>T

2 papers

NM_133493.5

p.N1065K

c.3195C>A

2 papers

NM_133493.5

p.N1065K

c.3195C>G

2 papers

NM_133493.5

p.L1075insFs

c.3224dupT

3 papers

NM_133493.5

p.L1075fs

c.3223_3224fs

1 paper

NM_133493.5

p.L1075_E1076delFs

c.3225_3228del4

1 paper

NM_133493.5

p.S1077F

c.3230C>T