Varaico: Literature-Extracted Genetic Variants

DLK1

143 papers

RefSeq Summary

This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of...

Pfam Domains

EGFaa 92–123UCSCEGF-like domain

EGFaa 131–166UCSCEGF-like domain

EGFaa 174–204UCSCEGF-like domain

EGFaa 212–243UCSCEGF-like domain

Gene Aliases

HGNC Name

delta like non-canonical Notch ligand 1

HGNC Alias Symbols

FA1; pG2; Pref-1; ZOG; Delta1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003836.7

p.P160delFs

c.480delT

Surrounding Variants

4 papers

NM_003836.7

p.P160fs

c.478_479fs

16 papers

NM_003836.7

p.P160fs

c.478_479fs

1 paper

NM_003836.7

p.G161fs

c.481_482fs

1 paper

NM_003836.7

p.P159_F162del0

c.477_485del9

1 paper

NM_003836.7

p.G161insFs

c.482_483insC

2 papers

NM_003836.7

p.P159insFs

c.475_476insC

9 papers

NM_003836.7

p.P160delFs

c.479delC

1 paper

NM_003836.7

p.L157L

c.471G>A

1 paper

NM_003836.7

p.G164G

c.492C>G

1 paper

NM_003836.7

p.A154D

c.461C>A

1 paper

NM_003836.7

p.E168K

c.502G>A

1 paper

NM_003836.7

p.C144F

c.431G>T