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.V58V

c.174G>C

Surrounding Variants

1 paper

NM_003836.7

p.T59I

c.176C>T

1 paper

NM_003836.7

p.G62S

c.184G>A

2 papers

NM_003836.7

p.H65R

c.194A>G

1 paper

NM_003836.7

p.Q50L

c.149A>T

1 paper

NM_003836.7

p.C68Y

c.203G>A

1 paper

NM_003836.7

p.R44Splc

c.132-2A>C

1 paper

NM_003836.7

p.Q73L

c.218A>T

3 papers

NM_003836.7

p.C74*

c.222C>A

1 paper

NM_003836.7

p.L84V

c.250C>G

1 paper

NM_003836.7

p.E38K

c.112G>A

1 paper

NM_003836.7

p.G35R

c.103G>A

1 paper

NM_003836.7

p.G35R

c.103G>C