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.D201N

c.601G>A

Surrounding Variants

1 paper

NM_006329.4

p.E200delFs

c.600delC

17 papers

NM_006329.4

p.G202R

c.604G>C

17 papers

NM_006329.4

p.G202R

c.604G>A

1 paper

NM_006329.4

p.N199T

c.596A>C

1 paper

NM_006329.4

p.S189S

c.567T>A

2 papers

NM_006329.4

p.A182P

c.544G>C

1 paper

NM_006329.4

p.Q178delFs

c.534delC

1 paper

NM_006329.4

p.C177W

c.531C>G

3 papers

NM_006329.4

p.R173H

c.518G>A

12 papers

NM_006329.4

p.I169T

c.506T>C

1 paper

NM_006329.4

p.L162L

c.484C>T

1 paper

NM_006329.4

p.C153Y

c.458G>A