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

1 paper

NM_001039348.3

p.D187E

c.561C>G

Surrounding Variants

1 paper

NM_001039348.3

p.D187E

c.561C>A

1 paper

NM_001039348.3

p.A186G

c.557C>G

2 papers

NM_001039348.3

p.C190R

c.568T>C

1 paper

NM_001039348.3

p.H182Y

c.544C>T

2 papers

NM_001039348.3

p.R194W

c.580C>T

2 papers

NM_001039348.3

p.T181M

c.542C>T

1 paper

NM_001039348.3

p.T178delFs

c.534delA

1 paper

NM_001039348.3

p.A198T

c.592G>A

1 paper

NM_001039348.3

p.Q200delFs

c.600delC

1 paper

NM_001039348.3

p.G204E

c.611G>A

5 papers

NM_001039348.3

p.Y205*

c.615T>G

6 papers

NM_001039348.3

p.Y205*

c.615T>A