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.E180K

c.538G>A

Surrounding Variants

2 papers

NM_003836.7

p.G183G

c.549C>T

1 paper

NM_003836.7

p.I188I

c.564T>C

1 paper

NM_003836.7

p.G189R

c.565G>A

1 paper

NM_003836.7

p.G189R

c.565G>C

1 paper

NM_003836.7

p.D191N

c.571G>A

1 paper

NM_003836.7

p.E168K

c.502G>A

1 paper

NM_003836.7

p.G164G

c.492C>G

1 paper

NM_003836.7

p.C196F

c.587G>T

9 papers

NM_003836.7

p.A198delFs

c.594delC

1 paper

NM_003836.7

p.G161insFs

c.482_483insC

14 papers

NM_003836.7

p.G199fs

c.595_596fs

1 paper

NM_003836.7

p.G161fs

c.481_482fs