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.D53D

c.159C>T

Surrounding Variants

1 paper

NM_001039348.3

p.D53E

c.159C>A

9 papers

NM_001039348.3

p.C55R

c.163T>C

1 paper

NM_001039348.3

p.P52L

c.155C>T

2 papers

NM_001039348.3

p.G57C

c.169G>T

11 papers

NM_001039348.3

p.D49A

c.146A>C

3 papers

NM_001039348.3

p.M59L

c.175A>T

3 papers

NM_001039348.3

p.M59L

c.175A>C

1 paper

NM_001039348.3

p.M59I

c.177G>T

1 paper

NM_001039348.3

p.M59I

c.177G>C

1 paper

NM_001039348.3

p.M59I

c.177G>A

1 paper

NM_001039348.3

p.C61S

c.182G>C

1 paper

NM_001039348.3

p.D44Y

c.130G>T