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

1 paper

NM_001145108.2

p.D440G

c.1319A>G

Surrounding Variants

3 papers

NM_001145108.2

p.R452C

c.1354C>T

1 paper

NM_001145108.2

p.S463C

c.1388C>G

1 paper

NM_001145108.2

p.C466W

c.1398C>G

1 paper

NM_001145108.2

p.I467M

c.1401C>G

2 papers

NM_001145108.2

p.G471E

c.1412G>A

1 paper

NM_001145108.2

p.D476A

c.1427A>C

1 paper

NM_001145108.2

p.D477A

c.1430A>C