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.E779_V780Splc

c.2337+649A>G

Surrounding Variants

1 paper

NM_133493.5

p.E779_V780Splc

c.2337+104A>G

1 paper

NM_133493.5

p.F771S

c.2312T>C

1 paper

NM_133493.5

p.I759M

c.2277C>G

1 paper

NM_133493.5

p.S757F

c.2270C>T

1 paper

NM_133493.5

p.L752F

c.2256G>C

1 paper

NM_133493.5

p.L752F

c.2256G>T

1 paper

NM_133493.5

p.L752fs

c.2254_2255fs

1 paper

NM_133493.5

p.F745L

c.2235C>G

1 paper

NM_133493.5

p.Q743*

c.2227C>T

1 paper

NM_133493.5

p.I784_E785insFs

c.2352_2353insC

6 papers

NM_133493.5

p.N797S

c.2390A>G

NM_001159588.3

p.N720S

c.2159A>G

1 paper

NM_133493.5

p.G803S

c.2407G>A