Varaico: Literature-Extracted Genetic Variants

FBLN5

185 papers

RefSeq Summary

The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells throu...

Pfam Domains

EGF_CAaa 42–83UCSCCalcium-binding EGF domain

EGF_CAaa 83–124UCSCCalcium-binding EGF domain

EGF_CAaa 127–166UCSCCalcium-binding EGF domain

cEGFaa 187–210UCSCComplement Clr-like EGF-like

cEGFaa 227–250UCSCComplement Clr-like EGF-like

cEGFaa 268–291UCSCComplement Clr-like EGF-like

Gene Aliases

HGNC Name

fibulin 5

HGNC Alias Symbols

EVEC; UP50; DANCE; ARMD3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006329.4

p.C138F

c.413G>T

Surrounding Variants

1 paper

NM_006329.4

p.C138Y

c.413G>A

1 paper

NM_006329.4

p.C138C

c.414C>T

1 paper

NM_006329.4

p.T133S

c.397A>T

1 paper

NM_006329.4

p.T133insFs

c.397_398ins8

3 papers

NM_006329.4

p.C144W

c.432C>G

1 paper

NM_006329.4

p.C144del1

c.430_432delGCA

1 paper

NM_006329.4

p.D127G

c.380A>G

1 paper

NM_006329.4

p.C153Y

c.458G>A

1 paper

NM_006329.4

p.L162L

c.484C>T

12 papers

NM_006329.4

p.I169T

c.506T>C

3 papers

NM_006329.4

p.R173H

c.518G>A

1 paper

NM_006329.4

p.C177W

c.531C>G