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

6 papers

NM_019074.4

p.F195L

c.585C>A

Surrounding Variants

6 papers

NM_019074.4

p.F195L

c.585C>G

1 paper

NM_019074.4

p.G196S

c.586G>A

6 papers

NM_019074.4

p.F195L

c.583T>C

2 papers

NM_019074.4

p.H194Y

c.580C>T

1 paper

NM_019074.4

p.D193E

c.579C>A

1 paper

NM_019074.4

p.V199M

c.595G>A

3 papers

NM_019074.4

p.R191H

c.572G>A

1 paper

NM_019074.4

p.C200ins8

c.598_599ins24

1 paper

NM_019074.4

p.R191C

c.571C>T

1 paper

NM_019074.4

p.C200insFs

c.600dupC

1 paper

NM_019074.4

p.Q201*

c.601C>T

7 papers

NM_019074.4

p.R186C

c.556C>T