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

1–12 of 233 variants

8 papers

NM_133493.5

p.Y703S

c.2108A>C

5 papers

NM_133493.5

p.I206V

c.616A>G

5 papers

NM_133493.5

p.N797S

c.2390A>G

5 papers

NM_133493.5

p.T1241M

c.3722C>T

4 papers

NM_133493.5

p.I129V

c.385A>G

4 papers

NM_133493.5

p.P570L

c.1709C>T

4 papers

NM_133493.5

p.V845I

c.2533G>A

3 papers

NM_133493.5

p.G828E

c.2483G>A

3 papers

NM_133493.5

p.Q1007E

c.3019C>G

3 papers

NM_133493.5

p.L1075fs

c.3223_3224fs

2 papers

NM_133493.5

p.G377D

c.1130G>A

2 papers

NM_133493.5

p.G426E

c.1277G>A