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.E339G

c.1016A>G

Surrounding Variants

1 paper

NM_001039348.3

p.T340N

c.1019C>A

1 paper

NM_001039348.3

p.E337K

c.1009G>A

1 paper

NM_001039348.3

p.I335T

c.1004T>C

1 paper

NM_001039348.3

p.D334delFs

c.1002delA

1 paper

NM_001039348.3

p.D334G

c.1001A>G

155 papers

NM_001039348.3

p.R345W

c.1033C>T

1 paper

NM_001039348.3

p.R345G

c.1033C>G

1 paper

NM_001039348.3

p.R345L

c.1034G>T

2 papers

NM_001039348.3

p.R345P

c.1034G>C

1 paper

NM_001039348.3

p.R345Q

c.1034G>A

2 papers

NM_001039348.3

p.D334Splc

c.1001-14C>T

1 paper

NM_001039348.3

p.Y353insFs

c.1058_1059insC