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

4 papers

NM_006486.3

p.H695R

c.2084A>G

Surrounding Variants

1 paper

NM_006486.3

p.R689Q

c.2066G>A

1 paper

NM_006486.3

p.N679N

c.2037C>T

1 paper

NM_006486.3

p.H671Y

c.2011C>T

1 paper

NM_006486.3

p.V660M

c.1978G>A