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.A120D

c.359C>A

Surrounding Variants

1 paper

NM_001039348.3

p.F118delFs

c.353_354delAA

1 paper

NM_001039348.3

p.S121_A122del2

c.361_365del6

1 paper

NM_001039348.3

p.G116fs

c.346_347fs

1 paper

NM_001039348.3

p.G116delFs

c.347delC

1 paper

NM_001039348.3

p.G116S

c.346G>A

2 papers

NM_001039348.3

p.G115R

c.343G>C

2 papers

NM_001039348.3

p.G115R

c.343G>A

1 paper

NM_001039348.3

p.A126E

c.377C>A

1 paper

NM_001039348.3

p.P114T

c.340C>A

1 paper

NM_001039348.3

p.G127R

c.379G>C

1 paper

NM_001039348.3

p.S106_G111del6

c.316_332del18

1 paper

NM_001039348.3

p.E129K

c.385G>A