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.R353H

c.1058G>A

Surrounding Variants

1 paper

NM_006486.3

p.T352M

c.1055C>T

1 paper

NM_006486.3

p.N348H

c.1042A>C

2 papers

NM_006486.3

p.L347V

c.1039C>G

1 paper

NM_006486.3

p.G368R

c.1102G>A

1 paper

NM_006486.3

p.G368R

c.1102G>C

1 paper

NM_006486.3

p.F380I

c.1138T>A

2 papers

NM_006486.3

p.T386M

c.1157C>T

1 paper

NM_006486.3

p.Y389S

c.1166A>C

1 paper

NM_006486.3

p.Y389Y

c.1167T>C

1 paper

NM_006486.3

p.G392S

c.1174G>A

1 paper

NM_006486.3

p.C397F

c.1190G>T

1 paper

NM_006486.3

p.G408E

c.1223G>A