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

1–12 of 153 variants

21 papers

NM_006329.4

p.C217R

c.649T>C

21 papers

NM_006329.4

p.S227P

c.679T>C

17 papers

NM_006329.4

p.G202R

c.604G>C

17 papers

NM_006329.4

p.G202R

c.604G>A

14 papers

NM_006329.4

p.G267S

c.799G>A

13 papers

NM_006329.4

p.R373C

c.1117C>T

12 papers

NM_006329.4

p.V126M

c.376G>A

12 papers

NM_006329.4

p.I169T

c.506T>C

11 papers

NM_006329.4

p.G412E

c.1235G>A

10 papers

NM_006329.4

p.Q124P

c.371A>C

10 papers

NM_006329.4

p.A363T

c.1087G>A

9 papers

NM_006329.4

p.R71Q

c.212G>A