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.L493F

c.1479G>T

Surrounding Variants

1 paper

NM_133493.5

p.L493F

c.1479G>C

1 paper

NM_133493.5

p.L493W

c.1478T>G

1 paper

NM_133493.5

p.L493V

c.1477T>G

1 paper

NM_133493.5

p.Y498H

c.1492T>C

1 paper

NM_133493.5

p.Y498C

c.1493A>G

1 paper

NM_133493.5

p.S450G

c.1348A>G

1 paper

NM_133493.5

p.Y446D

c.1336T>G

1 paper

NM_133493.5

p.A445T

c.1333G>A

1 paper

NM_133493.5

p.Q442K

c.1324C>A

1 paper

NM_133493.5

p.F428fs

c.1282_1283fs

1 paper

NM_133493.5

p.F428delFs

c.1284delT

2 papers

NM_133493.5

p.G426E

c.1277G>A