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.Q366E

c.1096C>G

Surrounding Variants

2 papers

NM_001039348.3

p.C365S

c.1094G>C

1 paper

NM_001039348.3

p.C365Y

c.1094G>A

1 paper

NM_001039348.3

p.C365delFs

c.1093delA

2 papers

NM_001039348.3

p.C365S

c.1093T>A

1 paper

NM_001039348.3

p.C365fs

c.1093_1094fs

1 paper

NM_001039348.3

p.P368S

c.1102C>T

1 paper

NM_001039348.3

p.D367delFs

c.1101delA

2 papers

NM_001039348.3

p.Y369C

c.1106A>G

3 papers

NM_001039348.3

p.R362*

c.1084C>T

2 papers

NM_001039348.3

p.P373L

c.1118C>T

1 paper

NM_001039348.3

p.E374Q

c.1120G>C

2 papers

NM_001039348.3

p.R358C

c.1072C>T