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.S252delFs

c.754delT

Surrounding Variants

1 paper

NM_006329.4

p.S254P

c.760T>C

1 paper

NM_006329.4

p.E250K

c.748G>A

1 paper

NM_006329.4

p.E255Q

c.763G>C

1 paper

NM_006329.4

p.Q265*

c.793C>T

1 paper

NM_006329.4

p.P266L

c.797C>T

14 papers

NM_006329.4

p.G267S

c.799G>A

1 paper

NM_006329.4

p.G267D

c.800G>A

1 paper

NM_006329.4

p.Y269F

c.806A>T

1 paper

NM_006329.4

p.P274H

c.821C>A

1 paper

NM_006329.4

p.L279L

c.835C>T

1 paper

NM_006329.4

p.D281_D282insG

c.841_845ins3

1 paper

NM_006329.4

p.D282N

c.844G>A