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

11 papers

NM_006329.4

p.G412E

c.1235G>A

Surrounding Variants

1 paper

NM_006329.4

p.I410T

c.1229T>C

1 paper

NM_006329.4

p.R414Q

c.1241G>A

1 paper

NM_006329.4

p.I410L

c.1228A>C

1 paper

NM_006329.4

p.P409L

c.1226C>T

1 paper

NM_006329.4

p.Q417*

c.1249C>T

1 paper

NM_006329.4

p.T397_G398ins8

c.1189_1193ins24

1 paper

NM_006329.4

p.V428L

c.1282G>C

1 paper

NM_006329.4

p.N430_R432del3

c.1288_1295del9

1 paper

NM_006329.4

p.G433delFs

c.1298delC

1 paper

NM_006329.4

p.Q445delFs

c.1335delC

3 papers

NM_006329.4

p.E391*

c.1171G>T

1 paper

NM_006329.4

p.N387T

c.1160A>C