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

1 paper

NM_133493.5

p.V389A

c.1166T>C

Surrounding Variants

1 paper

NM_133493.5

p.V389I

c.1165G>A

1 paper

NM_133493.5

p.N388D

c.1162A>G

1 paper

NM_133493.5

p.E383K

c.1147G>A

2 papers

NM_133493.5

p.G377D

c.1130G>A

1 paper

NM_133493.5

p.S403R

c.1209C>A

1 paper

NM_133493.5

p.S403R

c.1209C>G

1 paper

NM_133493.5

p.Q416E

c.1246C>G

1 paper

NM_133493.5

p.Y420S

c.1259A>C

2 papers

NM_133493.5

p.G426E

c.1277G>A

1 paper

NM_133493.5

p.F428delFs

c.1284delT

1 paper

NM_133493.5

p.F428fs

c.1282_1283fs

1 paper

NM_133493.5

p.Q442K

c.1324C>A