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.R248W

c.742C>T

Surrounding Variants

1 paper

NM_019074.4

p.I254fs

c.760_761fs

1 paper

NM_019074.4

p.R242C

c.724C>T

1 paper

NM_019074.4

p.I254delFs

c.762delC

1 paper

NM_019074.4

p.P255S

c.763C>T

1 paper

NM_019074.4

p.H256R

c.767A>G

1 paper

NM_019074.4

p.R260H

c.779G>A

2 papers

NM_019074.4

p.G262S

c.784G>A

1 paper

NM_019074.4

p.C264_T266del3

c.790_797del9

1 paper

NM_019074.4

p.S265insFs

c.794dupG

1 paper

NM_019074.4

p.S265_T266Fs

c.794_797delinsCCFs

8 papers

NM_019074.4

p.P267T

c.799C>A

1 paper

NM_019074.4

p.F280Y

c.839T>A