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.E38K

c.112G>A

Surrounding Variants

1 paper

NM_003836.7

p.G35R

c.103G>A

1 paper

NM_003836.7

p.G35R

c.103G>C

1 paper

NM_003836.7

p.P32L

c.95C>T

1 paper

NM_003836.7

p.P32S

c.94C>T

1 paper

NM_003836.7

p.A29insFs

c.86_87insC

1 paper

NM_003836.7

p.F27F

c.81C>T

1 paper

NM_003836.7

p.A24G

c.71C>G

1 paper

NM_003836.7

p.G23Splc

c.68-7A>T

1 paper

NM_003836.7

p.G23Splc

c.68-126G>T

1 paper

NM_003836.7

p.R44Splc

c.132-2A>C

1 paper

NM_003836.7

p.Q50L

c.149A>T

1 paper

NM_003836.7

p.V58V

c.174G>C