Varaico: Literature-Extracted Genetic Variants

DLL4

116 papers

RefSeq Summary

This gene is a homolog of the Drosophila delta gene. The delta gene family encodes Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. [provided by RefSeq, J...

Pfam Domains

MNNLaa 27–173UCSCN terminus of Notch ligand C2-like domain

DSLaa 175–220UCSCDelta serrate ligand

EGF_DL_JAGaa 260–285UCSCDelta-like/Jagged, EGF-like domain

EGFaa 281–320UCSCEGF-like domain

EGFaa 328–358UCSCEGF-like domain

EGFaa 366–398UCSCEGF-like domain

Gene Aliases

HGNC Name

delta like canonical Notch ligand 4

HGNC Previous Names

delta-like 4 homolog (Drosophila); delta-like 4 (Drosophila)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_019074.4

p.G625_T626Fs

c.1874_1876delinsCFs

Surrounding Variants

2 papers

NM_019074.4

p.G625R

c.1873G>A

2 papers

NM_019074.4

p.G625R

c.1873G>C

1 paper

NM_019074.4

p.M627insFs

c.1879dupA

1 paper

NM_019074.4

p.L622V

c.1864C>G

1 paper

NM_019074.4

p.P621fs

c.1861_1862fs

1 paper

NM_019074.4

p.P621A

c.1861C>G

2 papers

NM_019074.4

p.P619_L622delFs

c.1857_1864del8

1 paper

NM_019074.4

p.H633Q

c.1899C>A

1 paper

NM_019074.4

p.H633Q

c.1899C>G

2 papers

NM_019074.4

p.Q609*

c.1825C>T

1 paper

NM_019074.4

p.S603T

c.1807T>A

1 paper

NM_019074.4

p.S648fs

c.1942_1943fs