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

13 papers

NM_006329.4

p.R373C

c.1117C>T

Surrounding Variants

1 paper

NM_006329.4

p.Y374Y

c.1122C>T

1 paper

NM_006329.4

p.G376A

c.1127G>C

1 paper

NM_006329.4

p.Q367delFs

c.1101delT

1 paper

NM_006329.4

p.Y378Y

c.1134T>C

1 paper

NM_006329.4

p.F366F

c.1098C>T

1 paper

NM_006329.4

p.F366S

c.1097T>C

1 paper

NM_006329.4

p.I365V

c.1093A>G

2 papers

NM_006329.4

p.D364Y

c.1090G>T

10 papers

NM_006329.4

p.A363T

c.1087G>A

1 paper

NM_006329.4

p.V361I

c.1081G>A

1 paper

NM_006329.4

p.G386G

c.1158G>A

1 paper

NM_006329.4

p.N387H

c.1159A>C