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.E518K

c.1552G>A

Surrounding Variants

1 paper

NM_019074.4

p.C517delFs

c.1549delT

1 paper

NM_019074.4

p.R516C

c.1546C>T

1 paper

NM_019074.4

p.V521M

c.1561G>A

1 paper

NM_019074.4

p.N507D

c.1519A>G

1 paper

NM_019074.4

p.W529insFs

c.1585_1586insC

1 paper

NM_019074.4

p.C506*

c.1518C>A

1 paper

NM_019074.4

p.W529L

c.1586G>T

1 paper

NM_019074.4

p.S500F

c.1499C>T

1 paper

NM_019074.4

p.D498N

c.1492G>A

1 paper

NM_019074.4

p.A539delFs

c.1617delA

1 paper

NM_019074.4

p.A493T

c.1477G>A

1 paper

NM_019074.4

p.V550E

c.1649T>A