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.D715H

c.2143G>C

Surrounding Variants

2 papers

NM_133493.5

p.V713V

c.2139A>G

1 paper

NM_133493.5

p.S716F

c.2147C>T

1 paper

NM_133493.5

p.T712A

c.2134A>G

1 paper

NM_133493.5

p.Y706*

c.2118C>A

9 papers

NM_133493.5

p.Y703S

c.2108A>C

NM_001159588.3

p.Y626S

c.1877A>C

1 paper

NM_133493.5

p.G732R

c.2194G>C

2 papers

NM_133493.5

p.T738I

c.2213C>T

1 paper

NM_133493.5

p.V740L

c.2218G>C

2 papers

NM_133493.5

p.V740L

c.2218G>T

1 paper

NM_133493.5

p.T693I

c.2078C>T

1 paper

NM_133493.5

p.R687Q

c.2060G>A

1 paper

NM_133493.5

p.Q743*

c.2227C>T