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

21 papers

NM_006329.4

p.C217R

c.649T>C

Surrounding Variants

1 paper

NM_006329.4

p.C221insFs

c.661dupT

21 papers

NM_006329.4

p.S227P

c.679T>C

1 paper

NM_006329.4

p.R231H

c.692G>A

1 paper

NM_006329.4

p.R231delFs

c.691delG

1 paper

NM_006329.4

p.Y236_L238del0

c.708_713del6

1 paper

NM_006329.4

p.C245C

c.735C>T

1 paper

NM_006329.4

p.D247Splc

c.739+55T>C

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.E200delFs

c.600delC

1 paper

NM_006329.4

p.D201N

c.601G>A

1 paper

NM_006329.4

p.N199T

c.596A>C