Varaico: Literature-Extracted Genetic Variants

EFEMP1

288 papers

RefSeq Summary

This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like rep...

Pfam Domains

EGF_CAaa 44–84UCSCCalcium-binding EGF domain

EGF_CAaa 173–212UCSCCalcium-binding EGF domain

cEGFaa 234–257UCSCComplement Clr-like EGF-like

cEGFaa 274–297UCSCComplement Clr-like EGF-like

cEGFaa 315–337UCSCComplement Clr-like EGF-like

Fibulin_Caa 391–490UCSCFibulin C-terminal Ig-like domain

Gene Aliases

HGNC Name

EGF-like fibulin extracellular matrix protein 1

HGNC Previous Symbols

DHRD; FBNL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_001039348.3

p.R148C

c.442C>T

Surrounding Variants

1 paper

NM_001039348.3

p.I149F

c.445A>T

1 paper

NM_001039348.3

p.A144del1

c.430_432delAGC

1 paper

NM_001039348.3

p.N142K

c.426C>G

1 paper

NM_001039348.3

p.N142K

c.426C>A

17 papers

NM_001039348.3

p.R140W

c.418C>T

1 paper

NM_001039348.3

p.R156C

c.466C>T

1 paper

NM_001039348.3

p.R156H

c.467G>A

1 paper

NM_001039348.3

p.I139V

c.415A>G

1 paper

NM_001039348.3

p.I157T

c.470T>C

1 paper

NM_001039348.3

p.A161T

c.481G>A

2 papers

NM_001039348.3

p.R134*

c.400C>T

1 paper

NM_001039348.3

p.G133insFs

c.397_398ins8