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

1–12 of 123 variants

16 papers

NM_003836.7

p.P160fs

c.478_479fs

14 papers

NM_003836.7

p.G199fs

c.595_596fs

9 papers

NM_003836.7

p.P160delFs

c.479delC

9 papers

NM_003836.7

p.A198delFs

c.594delC

8 papers

NM_003836.7

p.P270delFs

c.810delT

5 papers

NM_003836.7

p.R101G

c.301A>G

4 papers

NM_003836.7

p.P160fs

c.478_479fs

3 papers

NM_003836.7

p.M1R

c.2T>G

3 papers

NM_003836.7

p.C74*

c.222C>A

3 papers

NM_003836.7

p.P96_C97insFs

c.288_289insC

3 papers

NM_003836.7

p.C97fs

c.289_290fs

3 papers

NM_003836.7

p.V104M

c.310G>A