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

4 papers

NM_019074.4

p.C437S

c.1309T>A

Surrounding Variants

4 papers

NM_019074.4

p.C437S

c.1310G>C

1 paper

NM_019074.4

p.L439delFs

c.1315delC

1 paper

NM_019074.4

p.P430S

c.1288C>T

1 paper

NM_019074.4

p.C444Y

c.1331G>A

1 paper

NM_019074.4

p.R429H

c.1286G>A

2 papers

NM_019074.4

p.R429C

c.1285C>T

3 papers

NM_019074.4

p.R446H

c.1337G>A

3 papers

NM_019074.4

p.C449S

c.1345T>A

3 papers

NM_019074.4

p.C449R

c.1345T>C

3 papers

NM_019074.4

p.C449S

c.1346G>C

2 papers

NM_019074.4

p.R424S

c.1270C>A

1 paper

NM_019074.4

p.R424C

c.1270C>T