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

7 papers

NM_019074.4

p.R558*

c.1672C>T

Surrounding Variants

1 paper

NM_019074.4

p.R558G

c.1672C>G

1 paper

NM_019074.4

p.R559Q

c.1676G>A

1 paper

NM_019074.4

p.P560fs

c.1678_1679fs

9 papers

NM_019074.4

p.Q554*

c.1660C>T

2 papers

NM_019074.4

p.G563S

c.1687G>A

1 paper

NM_019074.4

p.R565G

c.1693A>G

1 paper

NM_019074.4

p.V550E

c.1649T>A

1 paper

NM_019074.4

p.E566G

c.1697A>G

1 paper

NM_019074.4

p.A567S

c.1699G>T

1 paper

NM_019074.4

p.A539delFs

c.1617delA

1 paper

NM_019074.4

p.D577N

c.1729G>A

1 paper

NM_019074.4

p.W529L

c.1586G>T