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.I133V

c.397A>G

Surrounding Variants

1 paper

NM_133493.5

p.K137Q

c.409A>C

4 papers

NM_133493.5

p.I129V

c.385A>G

1 paper

NM_133493.5

p.A138S

c.412G>T

1 paper

NM_133493.5

p.A138V

c.413C>T

1 paper

NM_133493.5

p.A138A

c.414C>T

1 paper

NM_133493.5

p.E125A

c.374A>C

1 paper

NM_133493.5

p.E125Q

c.373G>C

1 paper

NM_133493.5

p.P142S

c.424C>T

1 paper

NM_133493.5

p.P142L

c.425C>T

1 paper

NM_133493.5

p.K143E

c.427A>G

1 paper

NM_133493.5

p.K143R

c.428A>G

1 paper

NM_133493.5

p.R121_L122delFs

c.363_364delCT