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

1–12 of 178 variants

9 papers

NM_019074.4

p.Q554*

c.1660C>T

8 papers

NM_019074.4

p.P267T

c.799C>A

7 papers

NM_019074.4

p.A121P

c.361G>C

7 papers

NM_019074.4

p.R186C

c.556C>T

7 papers

NM_019074.4

p.C390R

c.1168T>C

7 papers

NM_019074.4

p.C390Y

c.1169G>A

7 papers

NM_019074.4

p.C455W

c.1365C>G

7 papers

NM_019074.4

p.R558*

c.1672C>T

6 papers

NM_019074.4

p.F195L

c.583T>C

6 papers

NM_019074.4

p.F195L

c.585C>A

6 papers

NM_019074.4

p.F195L

c.585C>G

4 papers

NM_019074.4

p.G28S

c.82G>A