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.M57L

c.169A>C

Surrounding Variants

1 paper

NM_006329.4

p.M57L

c.169A>T

2 papers

NM_006329.4

p.D56E

c.168C>G

2 papers

NM_006329.4

p.D56E

c.168C>A

8 papers

NM_006329.4

p.V60L

c.178G>C

1 paper

NM_006329.4

p.V60A

c.179T>C

1 paper

NM_006329.4

p.G64G

c.192C>T

1 paper

NM_006329.4

p.T48I

c.143C>T

1 paper

NM_006329.4

p.D44delFs

c.130delC

1 paper

NM_006329.4

p.P70T

c.208C>A

1 paper

NM_006329.4

p.P70P

c.210C>A

1 paper

NM_006329.4

p.R71G

c.211C>G

9 papers

NM_006329.4

p.R71Q

c.212G>A