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

2 papers

NM_006486.3

p.C50Y

c.149G>A

Surrounding Variants

1 paper

NM_006486.3

p.D49A

c.146A>C

1 paper

NM_006486.3

p.T56M

c.167C>T

1 paper

NM_006486.3

p.R42R

c.126G>A

1 paper

NM_006486.3

p.C61Y

c.182G>A

1 paper

NM_006486.3

p.E34K

c.100G>A

1 paper

NM_006486.3

p.D28D

c.84C>T

1 paper

NM_006486.3

p.E87D

c.261G>C

1 paper

NM_006486.3

p.E87D

c.261G>T

1 paper

NM_006486.3

p.R90G

c.268C>G

1 paper

NM_006486.3

p.H95Y

c.283C>T

1 paper

NM_006486.3

p.G96S

c.286G>A

1 paper

NM_006486.3

p.C110Y

c.329G>A