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.G28R

c.82G>C

Surrounding Variants

4 papers

NM_019074.4

p.G28S

c.82G>A

1 paper

NM_019074.4

p.G28_F30delFs

c.82_88del7

1 paper

NM_019074.4

p.S27F

c.80C>T

1 paper

NM_019074.4

p.V29_F30delFs

c.85_88del4

1 paper

NM_019074.4

p.V29_F30delFs

c.87_88delCT

1 paper

NM_019074.4

p.V29Fs

c.85_87delinsTFs

1 paper

NM_019074.4

p.V29_F30insFs

c.87_88insC

1 paper

NM_019074.4

p.F30_L32delFs

c.88_94del7

1 paper

NM_019074.4

p.F30delFs

c.89_90delTC

1 paper

NM_019074.4

p.F30delFs

c.90delC

1 paper

NM_019074.4

p.Q35R

c.104A>G

1 paper

NM_019074.4

p.E40K

c.118G>A