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

1 paper

NM_006157.5

p.T606S

c.1816A>T

Surrounding Variants

1 paper

NM_006157.5

p.T606S

c.1817C>G

1 paper

NM_006157.5

p.I597M

c.1791T>G

1 paper

NM_006157.5

p.P628S

c.1882C>T

1 paper

NM_006157.5

p.G639R

c.1915G>C

1 paper

NM_006157.5

p.T648P

c.1942A>C

1 paper

NM_006157.5

p.K650Q

c.1948A>C

1 paper

NM_006157.5

p.K650I

c.1949A>T

1 paper

NM_006157.5

p.K650N

c.1950A>C

1 paper

NM_006157.5

p.K650N

c.1950A>T

1 paper

NM_006157.5

p.K660_D661Splc

c.1981-3113T>C