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

1–12 of 93 variants

3 papers

NM_006157.5

p.R82Q

c.245G>A

2 papers

NM_006157.5

p.Q61L

c.182A>T

2 papers

NM_006157.5

p.R305*

c.913C>T

2 papers

NM_006157.5

p.R354W

c.1060C>T

2 papers

NM_006157.5

p.R459C

c.1375C>T

2 papers

NM_006157.5

p.C553F

c.1658G>T

2 papers

NM_006157.5

p.D661G

c.1982A>G

2 papers

NM_006157.5

p.L728F

c.2182C>T

1 paper

NM_001288713.1

p.P25P

c.75C>T

1 paper

NM_006157.5

p.D25E

c.75C>A

1 paper

NM_006157.5

p.Q47H

c.141G>C

1 paper

NM_006157.5

p.Q47H

c.141G>T