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

1–12 of 211 variants

155 papers

NM_001039348.3

p.R345W

c.1033C>T

17 papers

NM_001039348.3

p.R140W

c.418C>T

11 papers

NM_001039348.3

p.D49A

c.146A>C

10 papers

NM_001039348.3

p.R477C

c.1429C>T

9 papers

NM_001039348.3

p.C55R

c.163T>C

9 papers

NM_001039348.3

p.N80Y

c.238A>T

7 papers

NM_001039348.3

p.*494Q

c.1480T>C

6 papers

NM_001039348.3

p.M107fs

c.319_320fs

6 papers

NM_001039348.3

p.Y205*

c.615T>A

6 papers

NM_001039348.3

p.R387Q

c.1160G>A

5 papers

NM_001039348.3

p.R148C

c.442C>T

5 papers

NM_001039348.3

p.Y205*

c.615T>G