Varaico: Literature-Extracted Genetic Variants

EDIL3

68 papers

RefSeq Summary

The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and may be important in vessel wall remodeling and development. It also influences endothel...

Pfam Domains

EGFaa 26–58UCSCEGF-like domain

EGFaa 78–115UCSCEGF-like domain

hEGFaa 128–146UCSCHuman growth factor-like EGF

F5_F8_type_Caa 173–311UCSCF5/8 type C domain

Gene Aliases

HGNC Name

EGF like and discoidin domains 3

HGNC Alias Symbol

DEL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005711.5

p.A6T

c.16G>A

Surrounding Variants

1 paper

NM_005711.5

p.L9P

c.26T>C

1 paper

NM_005711.5

p.L10*

c.29T>A

1 paper

NM_005711.5

p.S14insFs

c.41_42ins25