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

1–12 of 82 variants

7 papers

NM_006486.3

p.Q141R

c.422A>G

4 papers

NM_006486.3

p.H695R

c.2084A>G

2 papers

NM_006486.3

p.C50Y

c.149G>A

2 papers

NM_006486.3

p.L347V

c.1039C>G

2 papers

NM_006486.3

p.T386M

c.1157C>T

2 papers

NM_006486.3

p.E608K

c.1822G>A

1 paper

NM_006486.3

p.R3insFs

c.9dupC

1 paper

NM_006486.3

p.A21P

c.61G>C

1 paper

NM_006486.3

p.L23Q

c.68T>A

1 paper

NM_006486.3

p.D28D

c.84C>T

1 paper

NM_006486.3

p.E34K

c.100G>A

1 paper

NM_006486.3

p.R42R

c.126G>A