Varaico: Literature-Extracted Genetic Variants

NELL2

70 papers

RefSeq Summary

The protein encoded by this gene is a glycoprotein containing several von Willebrand factor C domains and epidermal growth factor (EGF)-like domains. The encoded protein acts as a homotrimer and is fo...

Pfam Domains

Laminin_G_2aa 95–211UCSCLaminin G domain

VWCaa 274–330UCSCvon Willebrand factor type C domain

EGF_CAaa 440–480UCSCCalcium-binding EGF domain

EGF_3aa 486–521UCSCEGF domain

EGF_CAaa 555–600UCSCCalcium-binding EGF domain

EGF_CAaa 602–640UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

neural EGFL like 2

HGNC Previous Names

nel (chicken)-like 2; NEL-like 2 (chicken)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001145108.2

p.V91E

c.272T>A

Surrounding Variants

1 paper

NM_001145108.2

p.L109F

c.327G>T

1 paper

NM_001145108.2

p.L109F

c.327G>C

1 paper

NM_001145108.2

p.D62N

c.184G>A