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.V589A

c.1766T>C

Surrounding Variants

1 paper

NM_006486.3

p.V589M

c.1765G>A

1 paper

NM_006486.3

p.V593M

c.1777G>A

1 paper

NM_006486.3

p.N584N

c.1752C>T

1 paper

NM_006486.3

p.L603L

c.1807C>T

1 paper

NM_006486.3

p.V575I

c.1723G>A

2 papers

NM_006486.3

p.E608K

c.1822G>A

1 paper

NM_006486.3

p.Q569delFs

c.1706delA

1 paper

NM_006486.3

p.L567F

c.1699C>T

1 paper

NM_006486.3

p.R619L

c.1856G>T

1 paper

NM_006486.3

p.D635N

c.1903G>A

1 paper

NM_006486.3

p.R642L

c.1925G>T

1 paper

NM_006486.3

p.V657M

c.1969G>A