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.P208L

c.623C>T

Surrounding Variants

1 paper

NM_003836.7

p.P208R

c.623C>G

1 paper

NM_003836.7

p.R207C

c.619C>T

1 paper

NM_003836.7

p.T210S

c.629C>G

1 paper

NM_003836.7

p.T210_C217Fs

c.630_650delinsGCTGGGCFs

1 paper

NM_003836.7

p.A213A

c.639C>T

14 papers

NM_003836.7

p.G199fs

c.595_596fs

9 papers

NM_003836.7

p.A198delFs

c.594delC

1 paper

NM_003836.7

p.C196F

c.587G>T

1 paper

NM_003836.7

p.Q225E

c.673C>G

1 paper

NM_003836.7

p.D191N

c.571G>A

1 paper

NM_003836.7

p.Q225_H226insFs

c.675_676insA

1 paper

NM_003836.7

p.H226P

c.677A>C