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.M1R

c.2T>G

Surrounding Variants

1 paper

NM_003836.7

p.T2S

c.4A>T

1 paper

NM_003836.7

p.T4A

c.10A>G

1 paper

NM_003836.7

p.T4Fs

c.11delinsGCCCAFs

1 paper

NM_003836.7

p.L13L

c.39C>T

1 paper

NM_003836.7

p.L14Q

c.41T>A

1 paper

NM_003836.7

p.F17L

c.49T>C

1 paper

NM_003836.7

p.F17L

c.51C>A

1 paper

NM_003836.7

p.F17L

c.51C>G

2 papers

NM_003836.7

p.G23Splc

c.67+78C>T

1 paper

NM_003836.7

p.G23Splc

c.68-126G>T

1 paper

NM_003836.7

p.G23Splc

c.68-7A>T

1 paper

NM_003836.7

p.A24G

c.71C>G