Varaico: Literature-Extracted Genetic Variants

NELL1

90 papers

RefSeq Summary

This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A si...

Pfam Domains

Laminin_G_2aa 95–209UCSCLaminin G domain

VWCaa 216–274UCSCvon Willebrand factor type C domain

EGF_CAaa 377–417UCSCCalcium-binding EGF domain

EGF_3aa 423–458UCSCEGF domain

EGF_CAaa 492–537UCSCCalcium-binding EGF domain

EGF_CAaa 539–579UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

neural EGFL like 1

HGNC Alias Symbols

IDH3GL; FLJ45906

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006157.5

p.D661G

c.1982A>G

Surrounding Variants

1 paper

NM_006157.5

p.S692R

c.2074A>C

1 paper

NM_006157.5

p.S692R

c.2076T>A

1 paper

NM_006157.5

p.S692R

c.2076T>G

1 paper

NM_006157.5

p.D696H

c.2086G>C

1 paper

NM_006157.5

p.Q714E

c.2140C>G

1 paper

NM_006157.5

p.Q715P

c.2144A>C

2 papers

NM_006157.5

p.L728F

c.2182C>T

1 paper

NM_006157.5

p.P731L

c.2192C>T

1 paper

NM_006157.5

p.C746Y

c.2237G>A

1 paper

NM_006157.5

p.K660_D661Splc

c.1981-3113T>C