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.R331H

c.992G>A

Surrounding Variants

3 papers

NM_006329.4

p.M333T

c.998T>C

1 paper

NM_006329.4

p.C334delFs

c.1002delA

1 paper

NM_006329.4

p.C341R

c.1021T>C

9 papers

NM_006329.4

p.R351W

c.1051C>T

1 paper

NM_006329.4

p.M353insFs

c.1058_1059insC

1 paper

NM_006329.4

p.M353_D354del2

c.1057_1061del6

1 paper

NM_006329.4

p.V356L

c.1066G>T

1 paper

NM_006329.4

p.V356L

c.1066G>C

1 paper

NM_006329.4

p.V356M

c.1066G>A

1 paper

NM_006329.4

p.V361I

c.1081G>A

10 papers

NM_006329.4

p.A363T

c.1087G>A

2 papers

NM_006329.4

p.D364Y

c.1090G>T