Varaico: Literature-Extracted Genetic Variants

FBLN2

151 papers

RefSeq Summary

This gene encodes an extracellular matrix protein, which belongs to the fibulin family. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in pa...

Pfam Domains

FIBL-2aa 86–115UCSCFibulin-2 domain

ANATOaa 445–480UCSCAnaphylotoxin-like domain

ANATOaa 521–553UCSCAnaphylotoxin-like domain

FXa_inhibitionaa 608–644UCSCCoagulation Factor Xa inhibitory site

EGF_CAaa 719–762UCSCCalcium-binding EGF domain

EGF_CAaa 764–808UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

fibulin 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001004019.2

p.G227fs

c.679_680fs

Surrounding Variants

1 paper

NM_001004019.2

p.G219fs

c.655_656fs

1 paper

NM_001004019.2

p.A218insFs

c.653_654ins4

1 paper

NM_001004019.2

p.L239L

c.715C>T

1 paper

NM_001004019.2

p.A249D

c.746C>A

1 paper

NM_001004019.2

p.A204T

c.610G>A

1 paper

NM_001004019.2

p.V250V

c.750C>G

1 paper

NM_001004019.2

p.R191*

c.571C>T

1 paper

NM_001004019.2

p.P265Q

c.794C>A

1 paper

NM_001004019.2

p.N180S

c.539A>G

1 paper

NM_001004019.2

p.D276V

c.827A>T

1 paper

NM_001004019.2

p.L174_H178Fs

c.522_534delinsGGFs

1 paper

NM_001004019.2

p.E285E

c.855G>A