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.C390Y

c.1169G>A

Surrounding Variants

7 papers

NM_019074.4

p.C390R

c.1168T>C

1 paper

NM_019074.4

p.N393fs

c.1177_1178fs

1 paper

NM_019074.4

p.N381delFs

c.1141delA

1 paper

NM_019074.4

p.K401_C406delFs

c.1201_1216del16

1 paper

NM_019074.4

p.S369Y

c.1106C>A

2 papers

NM_019074.4

p.S369C

c.1106C>G

1 paper

NM_019074.4

p.C366C

c.1098C>T

1 paper

NM_019074.4

p.G414R

c.1240G>A

1 paper

NM_019074.4

p.G414R

c.1240G>C

1 paper

NM_019074.4

p.C366G

c.1096T>G

1 paper

NM_019074.4

p.G414Splc

c.1240+5G>C

1 paper

NM_019074.4

p.T363_D368del0

c.1089_1103del15