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.P71L

c.212C>T

Surrounding Variants

2 papers

NM_019074.4

p.F76F

c.228C>T

1 paper

NM_019074.4

p.L62L

c.186T>C

1 paper

NM_019074.4

p.P82_S88del7

c.244_263del21

1 paper

NM_019074.4

p.G85_S88del4

c.253_263del12

1 paper

NM_019074.4

p.N87_S88del2

c.259_263del6

1 paper

NM_019074.4

p.N87_S88insC

c.259_263ins3

1 paper

NM_019074.4

p.S88_D94del7

c.262_281del21

1 paper

NM_019074.4

p.S88_F89del1

c.264_266delCTT

1 paper

NM_019074.4

p.F89_A90del2

c.265_269del6

1 paper

NM_019074.4

p.V91L

c.271G>C

1 paper

NM_019074.4

p.R92P

c.275G>C

1 paper

NM_019074.4

p.S95C

c.283A>T