Varaico: Literature-Extracted Genetic Variants

FBLN1

119 papers

RefSeq Summary

Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates ...

Pfam Domains

ANATOaa 36–69UCSCAnaphylotoxin-like domain

ANATOaa 112–144UCSCAnaphylotoxin-like domain

EGF_CAaa 216–260UCSCCalcium-binding EGF domain

EGF_CAaa 262–306UCSCCalcium-binding EGF domain

EGF_CAaa 308–354UCSCCalcium-binding EGF domain

EGF_CAaa 356–397UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

fibulin 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006486.3

p.D173N

c.517G>A

Surrounding Variants

1 paper

NM_006486.3

p.V167_E168insFs

c.501_502insC

1 paper

NM_006486.3

p.I165V

c.493A>G

1 paper

NM_006486.3

p.R191*

c.571C>T

1 paper

NM_006486.3

p.D192Y

c.574G>T

1 paper

NM_006486.3

p.C201insFs

c.602dupG

1 paper

NM_006486.3

p.C220G

c.658T>G

1 paper

NM_006486.3

p.T222M

c.665C>T

1 paper

NM_006486.3

p.G223V

c.668G>T

1 paper

NM_006486.3

p.S224C

c.670A>T

1 paper

NM_006486.3

p.G238V

c.713G>T

1 paper

NM_006486.3

p.R241C

c.721C>T

1 paper

NM_006486.3

p.R244Q

c.731G>A