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.P87L

c.260C>T

Surrounding Variants

7 papers

NM_006329.4

p.P87S

c.259C>T

4 papers

NM_006329.4

p.G90S

c.268G>A

1 paper

NM_006329.4

p.P91L

c.272C>T

1 paper

NM_006329.4

p.N82K

c.246C>A

1 paper

NM_006329.4

p.A94V

c.281C>T

1 paper

NM_006329.4

p.A94insFs

c.281_282insG

1 paper

NM_006329.4

p.G78_P79insC

c.232_236ins3

1 paper

NM_006329.4

p.P97A

c.289C>G

3 papers

NM_006329.4

p.V75A

c.224T>C

1 paper

NM_006329.4

p.S100_A101insA

c.298_302ins3

1 paper

NM_006329.4

p.S100A

c.298T>G

9 papers

NM_006329.4

p.R71Q

c.212G>A