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

3 papers

NM_003836.7

p.P96_C97insFs

c.288_289insC

Surrounding Variants

1 paper

NM_003836.7

p.S94A

c.280T>G

1 paper

NM_003836.7

p.C97insFs

c.289_290insC

3 papers

NM_003836.7

p.C97fs

c.289_290fs

2 papers

NM_003836.7

p.N100Y

c.298A>T

1 paper

NM_003836.7

p.N100_R101delins

c.300_301delinsTG

5 papers

NM_003836.7

p.R101G

c.301A>G

1 paper

NM_003836.7

p.V89I

c.265G>A

3 papers

NM_003836.7

p.V104M

c.310G>A

1 paper

NM_003836.7

p.D88Splc

c.263-13C>T

1 paper

NM_003836.7

p.D107G

c.320A>G

1 paper

NM_003836.7

p.P117S

c.349C>T

1 paper

NM_003836.7

p.G118R

c.352G>A